| 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. https://medlineplus.gov/genetics/condition/multiple-cutaneous-and-mucosal-venous-malformations/, http://omim.org/entry/600195?search=600195&highlight=600195, https://www.ncbi.nlm.nih.gov/pubmed/20301733 |
| Xrefs |
SNOMEDCT_US_2023_03_01:699301008 |
| Subsets |
DO_rare_slim |
| Synonyms |
cutaneomucosal venous malformation [EXACT] mucocutaneous venous malformations [EXACT] VMCM [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a vein disease is_a skin disease |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance disease has location some zone of skin disease has location some vein |