Cardiomyopathy, dilated, 1ii

Preferred Label : Cardiomyopathy, dilated, 1ii;

Symbol : CMD1II;

CISMeF acronym : CMD1II;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the alpha-B crystallin gene (CRYAB, 123590.0006);

Prefixed ID : #615184;

Details

Origin ID

615184;

UMLS CUI

C3554649;

Automatic exact mappings (from CISMeF team)
- CRYAB wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- dilated cardiomyopathy 1II [DO Concept]
DO Cross reference
- dilated cardiomyopathy 1II [DO Concept]
Genes related to phenotype
- Crystallin, alpha-b [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Dilated cardiomyopathy [HPO term]
- Mitral regurgitation [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 1II [DO Concept]

Keyword's position in hierarchy(ies) :

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