Cardiomyopathy, dilated, 1j

Preferred Label : Cardiomyopathy, dilated, 1j;

Symbol : CMD1J;

CISMeF acronym : CMD1J;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cardiomyopathy, dilated, with sensorineural hearing loss, autosomal dominant;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the EYA transcriptional coactivator and phosphatase 4 gene (EYA4, 603350.0003);

Prefixed ID : #605362;

Details

Origin ID

605362;

UMLS CUI

C1854368;

Broader ORDO disease(s)
- Familial isolated dilated cardiomyopathy [ORDO Disease]
Currated CISMeF NLP mapping
- Sensorineural deafness with dilated cardiomyopathy [ORDO Disease]
- Sensorineural deafness with dilated cardiomyopathy syndrome (disorder) [SNOMED CT concept]
- cardiomyopathy, dilated, 1J [MeSH concept]
- cardiomyopathy, dilated, 1J [MeSH Supplementary Concept]
- dilated cardiomyopathy 1J [DO Concept]
DO Cross reference
- dilated cardiomyopathy 1J [DO Concept]
Genes related to phenotype
- Eya transcriptional coactivator and phosphatase 4 [OMIM gene]
HPO term(s)
- Abnormal left ventricular function [HPO term]
- Autosomal dominant inheritance [HPO term]
- Congestive heart failure [HPO term]
- Dilated cardiomyopathy [HPO term]
- Sensorineural hearing impairment [HPO term]
- Sudden cardiac death [HPO term]
- Sudden death [HPO term]
ORDO concept(s)
- Sensorineural deafness with dilated cardiomyopathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- cardiomyopathy, dilated, 1J [MeSH Supplementary Concept]
- cardiomyopathy, dilated, 1J [MeSH concept]
- dilated cardiomyopathy 1J [DO Concept]

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