Cardiomyopathy, dilated, 3b

Preferred Label : Cardiomyopathy, dilated, 3b;

Symbol : CMD3B;

CISMeF acronym : CMD3B; XLCM;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cardiomyopathy, dilated, X-linked; XLCM;

Inheritance : X-linked;

Prefixed ID : #302045;

Détails

Origin ID

302045;

UMLS CUI

C3668940;

Automatic exact mappings (from CISMeF team)
- DMD wt Allele [NCIt concept]
- muscular dystrophy, duchenne [MeSH Descriptor]
Broader ORDO disease(s)
- Familial isolated dilated cardiomyopathy [ORDO Disease]
Currated CISMeF NLP mapping
- Dilated cardiomyopathy 3B (disorder) [SNOMED CT concept]
- Dmd-Associated dilated cardiomyopathy [MeSH Supplementary Concept]
- X-linked dilated cardiomyopathy [DO Concept]
DO Cross reference
- X-linked dilated cardiomyopathy [DO Concept]
Genes related to phenotype
- Dystrophin [OMIM gene]
HPO term(s)
- Dilated cardiomyopathy [HPO term]
- X-linked inheritance [HPO term]
ORDO concept(s)
- Familial isolated dilated cardiomyopathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- DMD-related dilated cardiomyopathy [DO Concept]
- Dilated cardiomyopathy 3B (disorder) [SNOMED CT concept]
- Dmd-Associated dilated cardiomyopathy [MeSH concept]
- Dmd-Associated dilated cardiomyopathy [MeSH Supplementary Concept]
- X-linked dilated cardiomyopathy [DO Concept]
Validated automatic mappings to NTBT
- Familial isolated dilated cardiomyopathy [ORDO Disease]

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