Cardiomyopathy, familial hypertrophic, 25

Preferred Label : Cardiomyopathy, familial hypertrophic, 25;

Symbol : CMH25;

CISMeF acronym : CMH25;

Type : Phenotype, molecular basis known;

Included titles and symbols : Cardiomyopathy, dilated, 1n; CMD1N;

Description : Dilated cardiomyopathy and associated heart failure are major causes of human morbidity and mortality. For background and phenotypic information on dilated cardiomyopathy, see CMD1A (115200).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the titin-CAP gene (TCAP, 604488.0003);

Prefixed ID : #607487;

Details

Origin ID

607487;

UMLS CUI

C4225408;

Automatic exact mappings (from CISMeF team)
- Familial isolated dilated cardiomyopathy [ORDO Disease]
Broader ORDO disease(s)
- Familial isolated dilated cardiomyopathy [ORDO Disease]
Currated CISMeF NLP mapping
- hypertrophic cardiomyopathy 25 [DO Concept]
DO Cross reference
- hypertrophic cardiomyopathy 25 [DO Concept]
Genes related to phenotype
- Titin-cap [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Dilated cardiomyopathy [HPO term]
- Left ventricular hypertrophy [HPO term]
- Wolff-Parkinson-White syndrome [HPO term]
See also inter- (CISMeF)
- cardiomyopathy, dilated, 1N [MeSH concept]
- cardiomyopathy, dilated, 1N [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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