ZFIN Human Disease: multiple cutaneous and mucosal venous malformations

OBO ID: DOID:0050792

Term Name:	multiple cutaneous and mucosal venous malformations		Search Ontology:
Synonyms:	cutaneomucosal venous malformation mucocutaneous venous malformations VMCM
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. (3)
References:	MESH:C563977 OMIM:600195 ORDO:2451 SNOMEDCT_US_2023_03_01:699301008 UMLS_CUI:C1838437
Ontology:	Human Disease ( DOID:0050792 )

Relationships

is a type of:	autosomal dominant disease skin disease vein disease autosomal dominant disease skin disease vein disease Show first 5 Terms

OTHER multiple cutaneous and mucosal venous malformations PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
TEK	tek	Venous malformations, multiple cutaneous and mucosal	600195

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS (1)