Cardiomyopathy, dilated, 1cc

Preferred Label : Cardiomyopathy, dilated, 1cc;

Symbol : CMD1CC;

CISMeF acronym : CMD1CC;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the nexilin F-actin-binding protein (NEXN, 613121.0001);

Prefixed ID : #613122;

Details

Origin ID

613122;

UMLS CUI

C2751084;

Automatic exact mappings (from CISMeF team)
- Familial isolated dilated cardiomyopathy [ORDO Disease]
Currated CISMeF NLP mapping
- cardiomyopathy, dilated, 1CC [MeSH concept]
- cardiomyopathy, dilated, 1CC [MeSH Supplementary Concept]
- dilated cardiomyopathy 1CC [DO Concept]
DO Cross reference
- dilated cardiomyopathy 1CC [DO Concept]
Genes related to phenotype
- Nexilin f-actin-binding protein [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Dilated cardiomyopathy [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, 1CC [MeSH Supplementary Concept]
- cardiomyopathy, dilated, 1CC [MeSH concept]
- dilated cardiomyopathy 1CC [DO Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients