Visualize Submit Comment
Metadata
ID DOID:0050792
Name multiple cutaneous and mucosal venous malformations
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.
http://omim.org/entry/600195?search=600195&highlight=600195, https://medlineplus.gov/genetics/condition/multiple-cutaneous-and-mucosal-venous-malformations/, https://www.ncbi.nlm.nih.gov/pubmed/20301733
Xrefs

MESH:C563977

OMIM:600195

ORDO:2451

SNOMEDCT_US_2023_03_01:699301008

UMLS_CUI:C1838437

Subsets

DO_rare_slim

Synonyms

cutaneomucosal venous malformation [EXACT]

mucocutaneous venous malformations [EXACT]

VMCM [EXACT]

Parent Relationships

is_a vein disease

is_a skin disease

is_a autosomal dominant disease

Add an item to the term tracker