Cardiomyopathy, familial hypertrophic, 11

Preferred Label : Cardiomyopathy, familial hypertrophic, 11;

Symbol : CMH11;

CISMeF acronym : CMH11;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the cardiac muscle alpha actin gene (ACTC1, 102540.0003);

Prefixed ID : #612098;

Details

Origin ID

612098;

UMLS CUI

C2677506;

Broader ORDO disease(s)
- Familial isolated hypertrophic cardiomyopathy [ORDO Disease]
Currated CISMeF NLP mapping
- Familial Hypertrophic Cardiomyopathy Type 11 [NCIt concept]
- cardiomyopathy, familial hypertrophic, 11 [MeSH concept]
- cardiomyopathy, familial hypertrophic, 11 [MeSH Supplementary Concept]
- hypertrophic cardiomyopathy 11 [DO Concept]
DO Cross reference
- hypertrophic cardiomyopathy 11 [DO Concept]
Genes related to phenotype
- Actin, alpha, cardiac muscle [OMIM gene]
HPO term(s)
- Abnormality of cardiac conduction [HPO term]
- Arrhythmia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Hypertrophic cardiomyopathy [HPO term]
ORDO concept(s)
- Familial isolated hypertrophic cardiomyopathy [ORDO Disease]
See also inter- (CISMeF)
- ACTC1 wt Allele [NCIt concept]
- Familial isolated hypertrophic cardiomyopathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial Hypertrophic Cardiomyopathy Type 11 [NCIt concept]
- cardiomyopathy, familial hypertrophic, 11 [MeSH Supplementary Concept]
- cardiomyopathy, familial hypertrophic, 11 [MeSH concept]

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