Cardiomyopathy, dilated, 1i

Preferred Label : Cardiomyopathy, dilated, 1i;

Symbol : CMD1I;

CISMeF acronym : CMD1I;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the desmin gene (DES, 125660.0005);

Prefixed ID : #604765;

Details

Origin ID

604765;

UMLS CUI

C1858154;

Automatic exact mappings (from CISMeF team)
- DES wt Allele [NCIt concept]
- Familial isolated dilated cardiomyopathy [ORDO Disease]
- desmin [ORDO Gene]
- desmin [HGNC gene]
Broader ORDO disease(s)
- Familial isolated dilated cardiomyopathy [ORDO Disease]
Currated CISMeF NLP mapping
- cardiomyopathy, dilated, 1i [MeSH concept]
- cardiomyopathy, dilated, 1i [MeSH Supplementary Concept]
- dilated cardiomyopathy 1I [DO Concept]
DO Cross reference
- dilated cardiomyopathy 1I [DO Concept]
Genes related to phenotype
- Desmin [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Congestive heart failure [HPO term]
- Dilated cardiomyopathy [HPO term]
- Reduced systolic function [HPO term]
Not associated HPO term(s)
- Elevated circulating creatine kinase concentration [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, 1i [MeSH Supplementary Concept]
- cardiomyopathy, dilated, 1i [MeSH concept]
- dilated cardiomyopathy 1I [DO Concept]

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