From 0b67825f41378db83dc909f0dea47dbc08f0bf3d Mon Sep 17 00:00:00 2001 From: Robert Allaway Date: Tue, 28 May 2024 09:53:12 -0500 Subject: [PATCH] Update Diagnosis.yaml --- modules/Sample/Diagnosis.yaml | 5 ++++- 1 file changed, 4 insertions(+), 1 deletion(-) diff --git a/modules/Sample/Diagnosis.yaml b/modules/Sample/Diagnosis.yaml index f1878a5f..4376c837 100644 --- a/modules/Sample/Diagnosis.yaml +++ b/modules/Sample/Diagnosis.yaml @@ -12,7 +12,7 @@ enums: # meaning: https://www.ebi.ac.uk/ols/ontologies/cco/terms?iri=http%3A%2F%2Fidentifiers.org%2Fomim%2F101000 Schwannomatosis: description: A rare genetic disorder characterized by the presence of multiple schwannomas. - meaning: https://www.ebi.ac.uk/ols/ontologies/ncit/terms?iri=http%3A%2F%2Fpurl.obolibrary.org%2Fobo%2FNCIT_C6557 + meaning: http://purl.obolibrary.org/obo/NCIT_C6557 NF2-related schwannomatosis: description: Previously known as Neurofibromatosis type 2. SMARCB1-related schwannomatosis: @@ -26,6 +26,9 @@ enums: Most schwannomas originate from the eighth cranial nerve, whereas neurofibromas more commonly arise along the spinal nerve roots. notes: - Not in NCIT as of 2023-06-07 + Noonan Syndrome: + description: A rare, highly variable, multisystemic disorder mainly characterized by short stature, distinctive facial features, congenital heart defects, cardiomyopathy and an increased risk to develop tumors in childhood. + meaning: http://www.orpha.net/ORDO/Orphanet_648 Not Applicable: AgeGroupEnum: