Cardiomyopathy, dilated, 1x

Preferred Label : Cardiomyopathy, dilated, 1x;

Symbol : CMD1X;

CISMeF acronym : CMD1X;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cardiomyopathy, dilated, with mild or no proximal muscle weakness;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the fukutin gene (FKTN, 607440.0001);

Prefixed ID : #611615;

Details

Origin ID

611615;

UMLS CUI

C1969024;

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
- cardiomyopathy, dilated, 1x [MeSH concept]
- cardiomyopathy, dilated, 1x [MeSH Supplementary Concept]
- dilated cardiomyopathy 1X [DO Concept]
DO Cross reference
- dilated cardiomyopathy 1X [DO Concept]
Genes related to phenotype
- Fukutin [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Dilated cardiomyopathy [HPO term]
- Proximal muscle weakness [HPO term]
- Proximal muscle weakness, mild [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, 1x [MeSH Supplementary Concept]
- cardiomyopathy, dilated, 1x [MeSH concept]
- dilated cardiomyopathy 1X [DO Concept]

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