Cardiomyopathy, familial hypertrophic, 15

Preferred Label : Cardiomyopathy, familial hypertrophic, 15;

Symbol : CMH15;

CISMeF acronym : CMH15;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the vinculin gene (VCL, 193065.0002);

Prefixed ID : #613255;

Détails

Origin ID

613255;

UMLS CUI

C2750459;

Currated CISMeF NLP mapping
- cardiomyopathy, familial hypertrophic, 15 [MeSH concept]
- cardiomyopathy, familial hypertrophic, 15 [MeSH Supplementary Concept]
- hypertrophic cardiomyopathy 15 [DO Concept]
DO Cross reference
- hypertrophic cardiomyopathy 15 [DO Concept]
Genes related to phenotype
- Vinculin [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Congestive heart failure [HPO term]
- Dyspnea [HPO term]
- Endocardial fibrosis [HPO term]
- Hypertrophic cardiomyopathy [HPO term]
ORDO concept(s)
- Familial isolated hypertrophic cardiomyopathy [ORDO Disease]
See also inter- (CISMeF)
- Familial isolated hypertrophic cardiomyopathy [ORDO Disease]
- VCL wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- cardiomyopathy, familial hypertrophic, 15 [MeSH Supplementary Concept]
- cardiomyopathy, familial hypertrophic, 15 [MeSH concept]

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

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