Cardiomyopathy, dilated, 1o

Preferred Label : Cardiomyopathy, dilated, 1o;

Symbol : CMD1O;

CISMeF acronym : CMD1O;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cardiomyopathy, dilated, with ventricular tachycardia;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in ATP-binding cassette, subfamily C, member 9, ABCC9 (601439.0001);

Prefixed ID : #608569;

Details

Origin ID

608569;

UMLS CUI

C1837839;

Automatic exact mappings (from CISMeF team)
- ATP binding cassette subfamily C member 9 [ORDO Gene]
- ATP binding cassette subfamily C member 9 [HGNC gene]
- Familial isolated dilated cardiomyopathy [ORDO Disease]
Broader ORDO disease(s)
- Familial isolated dilated cardiomyopathy [ORDO Disease]
Currated CISMeF NLP mapping
- cardiomyopathy, dilated, 1o [MeSH concept]
- cardiomyopathy, dilated, 1o [MeSH Supplementary Concept]
- dilated cardiomyopathy 1O [DO Concept]
DO Cross reference
- dilated cardiomyopathy 1O [DO Concept]
Genes related to phenotype
- Atp-binding cassette, subfamily C, member 9 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Dilated cardiomyopathy [HPO term]
- Impaired myocardial contractility [HPO term]
- Ventricular tachycardia [HPO term]
ORDO concept(s)
- Familial isolated dilated cardiomyopathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- cardiomyopathy, dilated, 1o [MeSH Supplementary Concept]
- cardiomyopathy, dilated, 1o [MeSH concept]
- dilated cardiomyopathy 1O [DO Concept]

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