| neonatal cerebellar ataxia, GRM1-related, dog (MONDO:1012585) |
Any cerebellar ataxia that occurs dogs due to a mutation in the GRM1 gene. |
| muscular dystrophy, ANO5-related, rabbit (MONDO:1012828) |
Any muscular dystrophy that occurs in rabbits due to a mutation in the ANO5 gene created by genetic engineering or gene editing. |
| microcephaly, MFSD2A-related, sheep (MONDO:1012881) |
Microcephaly that occurs in sheep due to a mutation in the MFSD2A gene. |
| hypercholesterolemia, PCSK9-related, rabbit (MONDO:1012866) |
Hypercholesterolemia that occurs in rabbits due to a mutation in the PCSK9 gene created by genetic engineering or gene editing. |
| long QT syndrome, KCNQ1-related, rabbit (MONDO:1012868) |
Any heart disorder characterized by pathologically prolonged ventricular action potential duration that occurs in rabbits due to a mutation in the KCNQ1 gene created by genetic engineering or gene editing. |
| hyperkeratosis, non-human animal (MONDO:1012976) |
Hyperkeratosis that occurs in non-human animals. |
| hypoparathyroidism, RAPGEF5-related, horse (MONDO:1012905) |
Hypoparathyroidism that occurs in horses due to a mutation in the RAPGEF5 gene. Affected foals present with hypocalcemia, tetany and seizures. |
| laryngeal paralysis, RAPGEF6-related, dog (MONDO:1012815) |
Laryngeal paralysis that occurs in dogs due to a mutation in the RAPGEF6 gene. |
| lipid malabsorption, ACSL5-related, dog (MONDO:1012816) |
An inborn error of lipid metabolism characterized by stunted postnatal growth, steatorrhea, abdominal distension and wiry coat that occurs in dogs due to a mutation in the ACSL5 gene. |
| hypotrichosis, KRT71-related, cattle (MONDO:1012792) |
Congenital hypotrichosis that occurs in cattle due to a mutation in the KRT71 gene. |
| long QT syndrome, KCNH2-related, rabbit (MONDO:1012869) |
Any heart disorder characterized by pathologically prolonged ventricular action potential duration with sudden cardiac death due to polymorphic vetricular tachycardia that occurs in rabbits due to a mutation in the KCNH2 gene created by genetic engineering or gene editing. |
| hydrallantois, SLC12A1-related, cattle (MONDO:1012899) |
Hydrallantois that occurs in cattle due to a mutation in the SLC12A1 gene. |
| junctional epidermolysis bullosa, LAMC2-related, sheep (MONDO:1012728) |
Junctional epidermolysis bullosa that occurs in sheep due to a mutation in the LAMC2 gene. |
| melanoma-bearing Libechov minipig, pig (MONDO:1012693) |
Hereditary melanoma that occurs in melanoma-bearing Libechov minipipgs due to selective breeding for the purpose of creating a swine model of hereditary metastatic melanoma. |
| mucolipidosis, non-human animal (MONDO:1012980) |
Mucolipidosis that occurs in non-human animals. |
| hemifacial microsomia, domestic cat (MONDO:1012730) |
Any congenital malformation syndrome presenting with unilateral craniofacial abnormalities that occurs in cats. |
| hereditary footpad hyperkeratosis, FAM83G-related, dog (MONDO:1012666) |
An orthokeratotic palmoplantar hyperkeratosis leading to thickened and hardened footpads that occurs in dogs starting at an age of 18 to 24 weeks of age due to a mutation in the FAM83G gene. |
| hypertrophic cardiomyopathy, MYH7-related, pig (MONDO:1012810) |
Hypertrophic cardiomyopathy that occurs in pigs due to a mutation in the MYH7 gene. |
| ichthyosis, ABCA12-related, pig (MONDO:1012825) |
Ichthyosis that occurs in pigs due to a mutation in the ABCA12 gene. |
| mucopolysaccharidosis II, Kaka (MONDO:1012664) |
Any lysosomal storage disorder characterized by deficient iduronate-2-sulfatase (IDS) activity that occurs in kakas. |
| conjugated hyperbilirubinemia, golden lion tamarin (MONDO:1012612) |
A liver disorder characterized by chronic conjugated hyperbilirubinemia and abundant intrahepatic pigment in a centrilobular and midzonal distribution that occurs in golden lion tamarins. |
| mucopolysaccharidosis I, dog (MONDO:1012617) |
Any lysosomal storage disorder that occurs in dogs due to a mutation in the IDUA gene. |
| leukodystrophy, TSEN54-related, dog (MONDO:1012812) |
Leukodystrophy that occurs in dogs due to a mutation in the TSEN54 gene. |
| laryngeal paralysis and polyneuropathy, CNTNAP1-related, dog (MONDO:1012846) |
Laryngeal paralysis with variable dysphagia, dysphonia, high-stepping and uncoordinated gait, exercise intolerance, stumbling and tripping, and limb muscle atrophy that occurs in dogs due to a mutation in the CNTNAP1 gene. |
| ichthyosis, PNPLA1-related, dog (MONDO:1012712) |
Ichthyosis that occurs in dogs due to a mutation in the PNPLA1 gene. |
| nephritis, COL4A5-related, dog (MONDO:1012645) |
Nephritis that occurs in male dogs due to a mutation in the COL4A5 gene. |
| congenital hypotrichosis, non-human animal (MONDO:1012977) |
Congenital hypotrichosis that occurs in non-human animals. |
| membranoproliferative glomerulonephritis, CFH-related, pig (MONDO:1012614) |
Form of glomerulonephritis that occurs in pigs, is characterized by glomerular hypercellularity and thickening of the glomerular capillary walls and glomerular basement membrane due to large amounts of dense deposits, and is caused by an absence of omplement regulator factor H. |
| muscular dystrophy, TNNT1-related, sheep (MONDO:1012841) |
Any muscular dystrophy that occurs in sheep due to a mutation in the TNNT1 gene. |
| mucolipidosis, GNPTAB-related, domestic cat (MONDO:1012660) |
Mucolipidosis that occurs in cats due to a mutation in the GNPTAB gene. |
| hypotrichosis, HR-related, domestic cat (MONDO:1012818) |
Congenital hypotrichosis that occurs in cats due to a mutation in the HR gene. |
| lysosomal storage disease, CNP-related, dog (MONDO:1012942) |
Any lysosomal storage disease that occurs in dogs due to a mutation in the CNP gene. |
| glycogen storage disease IV, horse (MONDO:1012607) |
Any glycogen storage disease that occurs in horses due to a mutation in the GBE1 gene. |
| muscular dystrophy-dystroglycanopathy, LARGE1-related, dog (MONDO:1012907) |
Any muscular dystrophy due to abnormal glycosylation of α-dystroglycan that occurs in dogs due to a mutation in the LARGE1 gene. |
| fasting unconjugated hyperbilirubinemia, Bolivian squirrel monkey (MONDO:1012608) |
Any unconjugated hyperbilirubinemia due to an increase in the bilirubin turnover/production rate and/or decreased hepatic conjugation during fasting that occurs in Bolivian squirrel monkey. |
| inborn errors of metabolism, non-human animal (MONDO:1012979) |
Inborn errors of metabolism that occur in non-human animals. |
| ichthyosis, ASPRV1-related, dog (MONDO:1012786) |
Ichthyosis that occurs in dogs due to a mutation in the ASPRV1 gene. |
| glycogen storage disease IV, domestic cat (MONDO:1012606) |
Any glycogen storage disease that occurs in cats due to a mutation in the GBE1 gene. |
| hypertrophic cardiomyopathy, ALMS1-related, domestic cat (MONDO:1012859) |
Hypertrophic cardiomyopathy that occurs in cats due to a mutation in the ALMS1 gene. |
| microphthalmia-4, chicken (MONDO:1012616) |
Inherited microphthalmia that occurs in female chickens. |
| lysosomal storage disease, ARSG related, dog (MONDO:1012699) |
Any lysosomal storage disease that occurs in dogs due to a mutation in the ARSG gene. |
| muscular dystrophy with reduced β-sarcoglycan, domestic cat (MONDO:1012718) |
Any muscular dystrophy associated with β-sarcoglycan deficiency that occurs in cats. |
| ichthyosis, KRT1-related, dog (MONDO:1012893) |
Ichthyosis that occurs in dogs due to a mutation in the KRT1 gene. |
| hypertrophic cardiomyopathy, MYH7-related, rabbit (MONDO:1012811) |
Hypertrophic cardiomyopathy that occurs in rabbits due to a mutation in the MYH7 gene. |
| long QT syndrome, KCNE1-related, rabbit (MONDO:1012870) |
Any heart disorder characterized by pathologically prolonged ventricular action potential duration that occurs in rabbits due to a mutation in the KCNE1 gene created by genetic engineering or gene editing. |
| junctional epidermolysis bullosa, LAMC2-related, cattle (MONDO:1012727) |
Junctional epidermolysis bullosa that occurs in cattle due to a mutation in the LAMC2 gene. |
| hypertrophic cardiomyopathy, MYH7-related, domestic cat (MONDO:1012809) |
Hypertrophic cardiomyopathy that occurs in cats due to a mutation in the MYH7 gene. |
| ichthyosis, dog (MONDO:1012978) |
Ichthyosis that occurs in dogs. |
| hypotrichosis, HEPHL1-related, cattle (MONDO:1012821) |
Congenital hypotrichosis that occurs in cattle due to a mutation in the HEPHL1 gene. |
| mesangiocapillary glomerulonephritis, type I, sheep (MONDO:1012615) |
A form of glomerulonephritis that occurs in sheep and is characterized by thickening of glomerular capillary basement membranes, proliferation of mesangial cells, and peri-glomerular fibrosis and associated with C3 deficiency. |
| junctional epidermolysis bullosa, LAMA3-related, cattle (MONDO:1012725) |
Junctional epidermolysis bullosa that occurs in cattle due to a mutation in the LAMA3 gene. |
| junctional epidermolysis bullosa, ITGB4-related, sheep (MONDO:1012759) |
Junctional epidermolysis bullosa that occurs in sheep due to a mutation in the ITGB4 gene. |
| ichthyosis, DSP-related, cattle (MONDO:1012829) |
Ichthyosis that occurs in cattle due to a mutation in the DSP gene. |
| limb-girdle muscular dystrophy, SGCA-related, dog (MONDO:1012849) |
Any muscular dystrophy that occurs in dogs due to a mutation in the SGCA gene. |
| hypotrichosis, HR-related, sheep (MONDO:1012820) |
Congenital hypotrichosis that occurs in sheep due to a mutation in the HR gene. |
| glycogen storage disease IV, dog (MONDO:1012605) |
Any glycogen storage disease that occurs in dogs due to a glycogen branching enzyme (GBE) deficiency. |
| anemia, non-human animal (MONDO:1012981) |
Anemia that occurs in non-human animals. |
| ichthyosis, FA2H-related, cattle (MONDO:1012901) |
Ichthyosis that occurs in cattle due to a mutation in the FA2H gene. |
| ichthyosis, ABCA12-related, cattle (MONDO:1012826) |
Ichthyosis that occurs in cattle due to a mutation in the ABCA12 gene. |
| unconjugated hyperbilirubinemia, horse (MONDO:1012609) |
Unconjugated hyperbilirubinemia that occurs in horses. |
| mucopolysaccharidosis IIIB, pig (MONDO:1012671) |
Any lysosomal storage disorder that occurs in pigs due to a mutation in the NAGLU gene created by genetic engineering or gene editing. |
| intestinal cobalamin (vitamin B12) malabsorption, AMN-related, dog (MONDO:1012613) |
Intestinal cobalamin (vitamin B12) malabsorption that occurs in dogs due to a mutation in the AMN gene. |
| Leigh syndrome, SURF1-related, pig (MONDO:1012801) |
A mitochondrial disease characterized by central nervous system development delay that occurs in pigs due to a mutation in the SURF1 gene created by genetic engineering or gene editing. |
| junctional epidermolysis bullosa, LAMA3-related, horse (MONDO:1012724) |
Junctional epidermolysis bullosa that occurs in horses due to a mutation in the LAMA3 gene. |
| hyperbilirubinemia, non-human animal (MONDO:1012974) |
Hyperbilirubinemia that occurs in non-human animals. |
| motor neuron disease, TMCO6-related, sheep (MONDO:1012880) |
Motor neuron disease that occurs in sheep due to a mutation in the TMCO6 gene. |
| autosomal dominant nephritis, dog (MONDO:1012646) |
Autosomal dominant form of nephritis that occurs in dogs. |
| junctional epidermolysis bullosa, LAMC2-related, horse (MONDO:1012726) |
Junctional epidermolysis bullosa that occurs in horses due to a mutation in the LAMC2 gene. |
| mucopolysaccharidosis IIIB, dog (MONDO:1012670) |
Any lysosomal storage disorder that occurs in dogs due to a mutation in the NAGLU gene. |
| mucopolysaccharidosis I, domestic cat (MONDO:1012618) |
Any lysosomal storage disorder that occurs in cats due to a mutation in the IDUA gene. |
| hair shaft dysplasia, DSG4-related, domestic cat (MONDO:1012902) |
A disorder characterized by bulbous swellings of the hair shafts and hypotrichosis that occurs in cats due to a mutation in the DSG4 gene. |
| conjugated hyperbilirubinemia, sheep (MONDO:1012611) |
A liver disorder characterized by chronic conjugated hyperbilirubinemia and gross dark brown to black discoloration of the liver that occurs in sheep. |
| mucopolysaccharidosis II, dog (MONDO:1012665) |
Any lysosomal storage disorder characterized by deficient iduronate-2-sulfatase (IDS) activity that occurs in dogs. |
| hyperlipidemia, non-human animal (MONDO:1012975) |
Hyperlipidemia that occurs in non-human animals. |
| junctional epidermolysis bullosa, LAMB3-related, dog (MONDO:1012834) |
Junctional epidermolysis bullosa that occurs in dogs due to a mutation in the LAMB3 gene. |
| immunodeficiency syndrome, SLC5A3-related, horse (MONDO:1012711) |
Immunodeficiency characterized by B-lymphocyte lymphopenia and progressive anemia that occurs in horses due to a mutation in the SLC5A3 gene. |
| laryngeal paralysis, non-human animal (MONDO:1011928) |
A respiratory disorder characterized by an inability to abduct the arytenoid cartilages during inspiration resulting in a partial to complete airway obstruction and consequent respiratory distress. |
| hypogonadotropic hypogonadism, TAC3-related, domestic cat (MONDO:1012814) |
Hypogonadism characterized by dysfunctional GnRH release leading to low blood testosterone and pituitary hormone levels and impaired testicular function that occurs in cats due to a mutation in the TAC3 gene. |
| mucopolysaccharidosis IIIB, cattle (MONDO:1012672) |
Any lysosomal storage disorder that occurs in cattle due to a mutation in the NAGLU gene. |
| intestinal cobalamin (vitamin B12) malabsorption, CUBN-related, dog (MONDO:1012737) |
Intestinal cobalamin (vitamin B12) malabsorption that occurs in dogs due to a mutation in the CUBN gene. |
| canine multiple system degeneration, SERAC1-related, dog (MONDO:1012692) |
A progressive hereditary neurodegenerative disorder that occurs in dogs and is characterized by neuronal degeneration and loss in the cerebellum, olivary nuclei, substantia nigra, and caudate nuclei due to a mutation in the SERAC1 gene. |
| hydrallantois, non-human animal (MONDO:1011672) |
A gestational disease affecting pregnant animals characterized by excessive accumulation of fluid within the allantoic cavity and associated with fetal and placental abnormalities and fetal mortality. |
| junctional epidermolysis bullosa, ITGB4-related, cattle (MONDO:1012758) |
Junctional epidermolysis bullosa that occurs in cattle due to a mutation in the ITGB4 gene. |
| heart disorder, non-human animal (MONDO:1012982) |
Heart disorder that occurs in non-human animals. |
| ichthyosis, ABHD5-related, dog (MONDO:1012879) |
Ichthyosis that occurs in dogs due to a mutation in the ABHD5 gene. |
| mucopolysaccharidosis IIIB, emu (MONDO:1012669) |
Any lysosomal storage disorder that occurs in emu due to a mutation in the NAGLU gene. |
| junctional epidermolysis bullosa, LAMA3-related, dog (MONDO:1012723) |
Junctional epidermolysis bullosa that occurs in dogs due to a mutation in the LAMA3 gene. |
| atherosclerosis, APOE-related, rabbit (MONDO:1012776) |
Atherosclerosis that occurs in rabbits due to a mutation in the APOE gene created by genetic engineering or gene editing. |
| congenital myopathy, SPTBN4-related, pig (MONDO:1012822) |
Any congenital myopathy that occurs in pigs due to a mutation in the SPTBN4 gene. |
| Lewy body-like disease, CADPS2-related, yellow-crowned parrot (MONDO:1012937) |
A neurodegenerative disease characterized by severe ataxia, rigidity, and tremor with neuronal loss, spongiosis, and widespread Lewy body-like inclusions in many regions of the brain including the midbrain, basal ganglia, and neocortex that occurs in yellow-crowned parrot due to a mutation in the CADPS2 gene. |
| hypotrichosis, HR-related, pig (MONDO:1012819) |
Congenital hypotrichosis that occurs in pigs due to a mutation in the HR gene created by genetic engineering or gene editing. |
| hereditary nonpolyposis colorectal cancer, MSH6-related, rhesus monkey (MONDO:1012804) |
Tumors at the ileocecal junction, cecum and proximal colon that occur in rhesus macaques due to a germline mutation in the MSH6 gene. |
| familial chylomicronemia syndrome (MONDO:0018637) |
A rare autosomal recessive disease characterized by the buildup in the blood of fat particles called chylomicrons (chylomicronemia), severe hypertriglyceridemia, and the risk of recurrent and potentially fatal pancreatitis and other complications. It is caused by mutations in the gene encoding LPL or, less frequently, by mutations in genes encoding other proteins necessary for LPL function. |
