Cardiomyopathy, dilated, 1dd

Preferred Label : Cardiomyopathy, dilated, 1dd;

Symbol : CMD1DD;

CISMeF acronym : CMD1DD;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the RNA-binding motif protein-20 gene (RBM20, 613171.0001);

Prefixed ID : #613172;

Détails

Origin ID

613172;

UMLS CUI

C2750995;

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
- Dilated Cardiomyopathy-1DD [NCIt concept]
- cardiomyopathy, dilated, 1DD [MeSH concept]
- cardiomyopathy, dilated, 1DD [MeSH Supplementary Concept]
- dilated cardiomyopathy 1DD [DO Concept]
DO Cross reference
- dilated cardiomyopathy 1DD [DO Concept]
Genes related to phenotype
- Rna-binding motif protein 20 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Congestive heart failure [HPO term]
- Dilated cardiomyopathy [HPO term]
- Sudden cardiac death [HPO term]
ORDO concept(s)
- Familial isolated dilated cardiomyopathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Dilated Cardiomyopathy-1DD [NCIt concept]
- cardiomyopathy, dilated, 1DD [MeSH Supplementary Concept]
- cardiomyopathy, dilated, 1DD [MeSH concept]
- dilated cardiomyopathy 1DD [DO Concept]

Position du mot-clé dans l'(les) arborescence(s) :

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