Cardiomyopathy, dilated, 1v

Preferred Label : Cardiomyopathy, dilated, 1v;

Symbol : CMD1V;

CISMeF acronym : CMD1V;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the presenilin-2 gene (PSEN2, 600759.0008);

Prefixed ID : #613697;

Details

Origin ID

613697;

UMLS CUI

C3150958;

Automatic exact mappings (from CISMeF team)
- Familial isolated dilated cardiomyopathy [ORDO Disease]
Currated CISMeF NLP mapping
- cardiomyopathy, dilated, 1V [MeSH concept]
- cardiomyopathy, dilated, 1V [MeSH Supplementary Concept]
- dilated cardiomyopathy 1V [DO Concept]
DO Cross reference
- dilated cardiomyopathy 1V [DO Concept]
Genes related to phenotype
- Presenilin 2 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Congestive heart failure [HPO term]
- Dilated cardiomyopathy [HPO term]
- Syncope [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, 1V [MeSH Supplementary Concept]
- cardiomyopathy, dilated, 1V [MeSH concept]
- dilated cardiomyopathy 1V [DO Concept]

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