Sturge-Weber syndrome (DOID:0111563)
Alliance: disease page
Synonyms: encephalofacial angiomatosis; encephalotrigeminal angiomatosis; fourth phacomatosis; leptomeningeal angiomatosis; meningeal capillary angiomatosis; Sturge-Weber-Dimitri syndrome; Sturge-Weber-Krabbe angiomatosis; Sturge-Weber-Krabbe syndrome; SWS
Alt IDs: OMIM:185300, ICD10CM:Q85.89, MESH:D013341, NCI:C3391, ORDO:3205, UMLS_CUI:C0038505
Definition: A vascular disease characterized by intracranial vascular anomaly, leptomeningeal angiomatosis, facial cutaneous vascular malformations, and glaucoma that has_material_basis_in somatic mutation in the GNAQ gene on chromosome 9q21.2.