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: cutaneomucosal venous malformation, mucocutaneous venous malformations, VMCM

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

: tek

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0010842 - calcaneum cartilage element

MONDO:0010842 - calcaneum cartilage element

MIM:

MIM:600195 - VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL; VMCM

MIM:600195 - VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL; VMCM

Other Model Organisms: Alliance, 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)