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DOID:0111563 - Sturge-Weber syndrome
Disease Ontology 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.
Synonyms: SWS, Sturge-Weber-Dimitri syndrome, Sturge-Weber-Krabbe angiomatosis, Sturge-Weber-Krabbe syndrome, encephalofacial angiomatosis, encephalotrigeminal angiomatosis, fourth phacomatosis, leptomeningeal angiomatosis, meningeal capillary angiomatosis,
Xenbase Genes
:
gnaq
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
vascular disease (is_a)