Cardiomyopathy, dilated, 2e - CISMeF

" /> Cardiomyopathy, dilated, 2e - CISMeF

CISMeF

chu

Cardiomyopathy, dilated, 2eOMIM Phenotype

Preferred Label : Cardiomyopathy, dilated, 2e;

Symbol : CMD2E;

Type : Phenotype, molecular basis known;

Prefixed ID : #619492;

Details

Origin ID

619492;

UMLS CUI

C5561970;

Genes related to phenotype
- Junctophilin 2 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Death in childhood [HPO term]
- Death in infancy [HPO term]
- Dilated cardiomyopathy [HPO term]
- Ebstein anomaly of the tricuspid valve [HPO term]
- Reduced systolic function [HPO term]
ORDO concept(s)
- Familial isolated dilated cardiomyopathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients

Nous contacter.
18/06/2025

© Rouen University Hospital. Any partial or total use of this material must mention the source.