Cardiomyopathy, dilated, 1hh

Preferred Label : Cardiomyopathy, dilated, 1hh;

Symbol : CMD1HH;

CISMeF acronym : CMD1HH;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the BCL2-associated athanogene 3 gene (BAG3, 603883.0002);

Prefixed ID : #613881;

Details

Origin ID

613881;

UMLS CUI

C3151293;

Currated CISMeF NLP mapping
- dilated cardiomyopathy 1HH [DO Concept]
DO Cross reference
- dilated cardiomyopathy 1HH [DO Concept]
Genes related to phenotype
- Bcl2-associated athanogene 3 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Congestive heart failure [HPO term]
- Dilated cardiomyopathy [HPO term]
ORDO concept(s)
- Familial isolated dilated cardiomyopathy [ORDO Disease]
See also inter- (CISMeF)
- Familial isolated dilated cardiomyopathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Dilated Cardiomyopathy-1HH [NCIt concept]
- dilated cardiomyopathy 1HH [DO Concept]

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