Term Name: Sturge-Weber syndrome
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 )

Relationships
is a type of: vascular disease