X-linked cardiac valvular dysplasia

Summary

DOID:0111765 - X-linked cardiac valvular dysplasia

Disease Ontology Definition:A heart valve disease characterized by multivalvular dysplasia and regurgitation with more severe phenotypes in hemizygous males compared to heterozygous females that has_material_basis_in mutation in the FLNA gene on chromosome Xq28.

Synonyms: CVD1, Dystrophie valvulaire associee a FLNA, EDS 5, EDS5, Ehlers-Danlos syndrome, type 5, Filamin A-related X-linked myxomatous valvular dysplasia, FLNA-related valvular dystrophy, FLNA-related X-linked myxomatous valvular dysplasia, XMVD

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: flna

MIM:

MIM:314400 - CARDIAC VALVULAR DYSPLASIA, X-LINKED; CVDPX

MIM:314400 - CARDIAC VALVULAR DYSPLASIA, X-LINKED; CVDPX

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): heart valve disease (is_a), X-linked monogenic disease (is_a)