Mitral valve prolapse 2

Preferred Label : Mitral valve prolapse 2;

Symbol : MVP2;

CISMeF acronym : MMVP2; MVP2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mitral valve prolapse, myxomatous 2; Myxomatous mitral valve prolapse 2; MMVP2;

Description : Mitral valve prolapse (MVP) is a common disorder characterized by systolic displacement or billowing of the mitral leaflets into the left atrium, often accompanied by mitral regurgitation. For a general phenotypic description and a discussion of genetic heterogeneity of mitral valve prolapse, see MMVP1 (157700).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the homolog of Drosophila dachsous-1 gene (DCHS1, 603057.0004);

Prefixed ID : #607829;

Détails

Origin ID

607829;

UMLS CUI

C1843003;

Currated CISMeF NLP mapping
- mitral valve prolapse, myxomatous 2 [MeSH concept]
- mitral valve prolapse, myxomatous 2 [MeSH Supplementary Concept]
DO Cross reference
- mitral valve prolapse [DO Concept]
Genes related to phenotype
- Dachsous cadherin-related 1 [OMIM gene]
HPO term(s)
- Age-dependent penetrance [HPO term]
- Autosomal dominant inheritance [HPO term]
- Mitral regurgitation [HPO term]
- Mitral valve prolapse [HPO term]
ORDO concept(s)
- Familial mitral valve prolapse [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- mitral valve prolapse, myxomatous 2 [MeSH Supplementary Concept]
- mitral valve prolapse, myxomatous 2 [MeSH concept]

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

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