OBO ID: DOID:0111563
Term Name: Sturge-Weber syndrome Search Ontology:
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. (3)
References:
  • GARD:7706
  • ICD10CM:Q85.89
  • MESH:D013341
  • NCI:C3391
  • OMIM:185300
  • ORDO:3205
  • SNOMEDCT_US_2023_03_01:157030004
  • UMLS_CUI:C0038505
Ontology: Human Disease   ( DOID:0111563 )
Relationships
is a type of:
OTHER Sturge-Weber syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
GNAQ Sturge-Weber syndrome, somatic, mosaic 185300
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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