Cardiomyopathy, familial hypertrophic, 14

Preferred Label : Cardiomyopathy, familial hypertrophic, 14;

Symbol : CMH14;

CISMeF acronym : CMH14;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the alpha cardiac muscle heavy chain 6 myosin gene (MYH6, 160710.0002);

Prefixed ID : #613251;

Details

Origin ID

613251;

UMLS CUI

C2750467;

Automatic exact mappings (from CISMeF team)
- hypertrophic cardiomyopathy 14 [DO Concept]
Currated CISMeF NLP mapping
- Familial Hypertrophic Cardiomyopathy Type 14 [NCIt concept]
- cardiomyopathy, familial hypertrophic, 14 [MeSH concept]
- cardiomyopathy, familial hypertrophic, 14 [MeSH Supplementary Concept]
DO Cross reference
- hypertrophic cardiomyopathy 14 [DO Concept]
Genes related to phenotype
- Myosin, heavy chain 6, cardiac muscle, alpha [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Hypertrophic cardiomyopathy [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 14 [NCIt concept]
- cardiomyopathy, familial hypertrophic, 14 [MeSH Supplementary Concept]
- cardiomyopathy, familial hypertrophic, 14 [MeSH concept]

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