multiple cutaneous and mucosal venous malformations

Summary

DOID:0050792 - multiple cutaneous and mucosal venous malformations

Disease Ontology Definition:A vein disease that is characterized by multiple bluish cutaneous or mucosal venous lesions that has_material_basis_in heterozygous mutation in the TEK gene on chromosome 9p21.

Synonyms: VMCM, cutaneomucosal venous malformation, mucocutaneous venous malformations,

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

: tek

OMIM:

MIM:600195 - venous malformations, multiple cutaneous and mucosal; vmcm

MIM:600195 - venous malformations, multiple cutaneous and mucosal; vmcm

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

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

Parent(s): autosomal dominant disease (is_a), skin disease (is_a), vein disease (is_a)