Cardiomyopathy, familial hypertrophic, 17

Preferred Label : Cardiomyopathy, familial hypertrophic, 17;

Symbol : CMH17;

CISMeF acronym : CMH17;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the junctophilin-2 gene (JPH2, 605267.0001);

Prefixed ID : #613873;

Details

Origin ID

613873;

UMLS CUI

C3151264;

Currated CISMeF NLP mapping
- Familial Hypertrophic Cardiomyopathy Type 17 [NCIt concept]
- hypertrophic cardiomyopathy 17 [DO Concept]
DO Cross reference
- hypertrophic cardiomyopathy 17 [DO Concept]
Genes related to phenotype
- Junctophilin 2 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Cardiomyopathy [HPO term]
- Dyspnea [HPO term]
- Left ventricular hypertrophy [HPO term]
- Myocardial fibrosis [HPO term]
- Palpitations [HPO term]
- Ventricular tachycardia [HPO term]
ORDO concept(s)
- Familial isolated hypertrophic cardiomyopathy [ORDO Disease]
See also inter- (CISMeF)
- Familial isolated hypertrophic cardiomyopathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial Hypertrophic Cardiomyopathy Type 17 [NCIt concept]

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