Sturge-Weber syndrome true SWS SNOMEDCT_US_2018_03_01:19886006 Sturge-Weber-Krabbe syndrome Sturge-Weber-Krabbe angiomatosis Sturge-Weber-Dimitri syndrome DOID:0111563 meningeal capillary angiomatosis OMIM:185300 Sturge Weber syndrome is characterized by angiomas of the face, eye and leptomeninges. It is caused by an acquired somatic gene abnormality resulting in a gain of function in the GNAQ gene, in progenitor vascular cells. leptomeningeal angiomatosis GARD:7706 ORDO:3205 encephalotrigeminal angiomatosis encephalofacial angiomatosis UMLS_CUI:C0038505 fourth phacomatosis MESH:D013341 A vascular disease characterized by intracranial vascular anomaly, leptomeningeal angiomatosis, facial cutaneous vascular malformations, and glaucoma that has_material_basis_in somatic mutation in GNAQ on chromosome 9q21.2. disease_ontology vascular malformation