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Browse result for Multiple cutaneous and mucosal venous malformations

※ introduction

    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.

Reference
DiseaseOntology: Multiple cutaneous and mucosal venous malformations



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD06166Q027637010
TEK
Angiopoietin-1 receptor
Homo sapiens