Human genes for Sturge-Weber syndrome
Sturge-Weber syndrome [DOID:0111563]
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.
Synonyms: Sturge-Weber syndrome, DOID:0111563, SturgeWeber syndrome, Sturge-Weber disease, Sturge-Weber disorder ...