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DO Term : Sturge-Weber syndrome [DOID:0111563] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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:
  • GARD:7706,
  • leptomeningeal angiomatosis,
  • encephalofacial angiomatosis,
  • Sturge-Weber-Krabbe angiomatosis,
  • ORDO:3205,
  • UMLS_CUI:C0038505,
  • SNOMEDCT_US_2023_03_01:157030004,
  • 185300,
  • MESH:D013341,
  • SWS,
  • Sturge-Weber-Dimitri syndrome,
  • ICD10CM:Q85.89,
  • Sturge-Weber-Krabbe syndrome,
  • NCI:C3391,
  • encephalotrigeminal angiomatosis,
  • OMIM:185300,
  • fourth phacomatosis,
  • meningeal capillary angiomatosis
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