Term Name: | Sturge-Weber syndrome |
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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 |
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. |
Ontology: | Human Disease [DOID:0111563] ( DOID:0111563 ) |