Search Ontology:
Human Disease
multiple cutaneous and mucosal venous malformations
- Term ID
- DOID:0050792
- Synonyms
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- 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
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- MESH:C563977
- MIM:600195
- ORDO:2451
- SNOMEDCT_US_2023_03_01:699301008
- UMLS_CUI:C1838437
- Ontology
- Human Disease ( DOID:0050792 )
- is a type of
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Genes Involved
Zebrafish Models