Cardiomyopathy, dilated, 2a

Preferred Label : Cardiomyopathy, dilated, 2a;

Symbol : CMD2A;

CISMeF acronym : CMD2A;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cardiomyopathy, dilated, autosomal recessive; Cardiomyopathy, congestive, autosomal recessive;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the cardiac troponin I gene (TNNI3, 191044.0009);

Prefixed ID : #611880;

Détails

Origin ID

611880;

UMLS CUI

C2678474;

Automatic exact mappings (from CISMeF team)
- Familial isolated dilated cardiomyopathy [ORDO Disease]
- TNNI3 wt Allele [NCIt concept]
- cardiomyopathy, dilated [MeSH Descriptor]
- symbol withdrawn CMD2A [HGNC gene]
Broader ORDO disease(s)
- Familial isolated dilated cardiomyopathy [ORDO Disease]
Currated CISMeF NLP mapping
- cardiomyopathy, dilated, 2a [MeSH concept]
- cardiomyopathy, dilated, 2a [MeSH Supplementary Concept]
- dilated cardiomyopathy 2A [DO Concept]
DO Cross reference
- dilated cardiomyopathy 2A [DO Concept]
Genes related to phenotype
- Troponin I, cardiac [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Congestive heart failure [HPO term]
- Dilated cardiomyopathy [HPO term]
- Juvenile onset [HPO term]
- Young adult onset [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, 2a [MeSH Supplementary Concept]
- cardiomyopathy, dilated, 2a [MeSH concept]
- dilated cardiomyopathy 2A [DO Concept]
Validated automatic mappings to NTBT
- dilated cardiomyopathy [Disease (Nov.)]

Position du mot-clé dans l'(les) arborescence(s) :

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