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- NCIT_C172092 IAO_0000115 "An autosomal dominant subtype of familial hypertrophic cardiomyopathy caused by mutation(s) in the CAV3 gene, MYH7 gene, or MYLK2 gene encoding caveolin-3, myosin heavy chain 7, and myosin light chain kinase 2, skeletal/cardiac muscle respectively." @default.
- NCIT_C172092 NCIT_NHC0 "C172092" @default.
- NCIT_C172092 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C172092 NCIT_P108 "Familial Hypertrophic Cardiomyopathy Type 1" @default.
- NCIT_C172092 NCIT_P207 "C3279218" @default.
- NCIT_C172092 NCIT_P322 "Cellosaurus" @default.
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- NCIT_C172092 normalizedInformationContent "100" @default.
- NCIT_C172092 referenceCount "1" @default.
- NCIT_C172092 hasExactSynonym "Asymmetric Septal Hypertrophy" @default.
- NCIT_C172092 hasExactSynonym "CMH1" @default.
- NCIT_C172092 hasExactSynonym "Familial Hypertrophic Cardiomyopathy Type 1" @default.
- NCIT_C172092 hasExactSynonym "Hereditary Ventricular Hypertrophy" @default.
- NCIT_C172092 hasExactSynonym "IHSS" @default.
- NCIT_C172092 hasExactSynonym "Idiopathic Hypertrophic Subaortic Stenosis" @default.
- NCIT_C172092 inSubset NCIT_C165258 @default.
- NCIT_C172092 inSubset NCIT_C192842 @default.
- NCIT_C172092 type Class @default.
- NCIT_C172092 isDefinedBy ncit.owl @default.
- NCIT_C172092 label "Familial Hypertrophic Cardiomyopathy Type 1" @default.
- NCIT_C172092 subClassOf NCIT_C107377 @default.
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