FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Sturge-Weber syndrome ID (Ontology) DOID:0111563 (Human Disease)
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.
Also Known As "encephalofacial angiomatosis" ; "encephalotrigeminal angiomatosis" ; "fourth phacomatosis" (for all, see Synonyms field below)
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 Genes
 Sturge-Weber syndrome       3
 for disease ribbon | Sturge-Weber syndrome       3
 model of | Sturge-Weber syndrome       3
Spanning Tree (Parents/Children)
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  cardiovascular system disease
   |__vascular disease
       |__Sturge-Weber syndrome  3 rec.
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Is a vascular disease
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Synonyms
  • "encephalofacial angiomatosis" EXACT
    "encephalotrigeminal angiomatosis" EXACT
    "fourth phacomatosis" EXACT
    "leptomeningeal angiomatosis" EXACT
    "meningeal capillary angiomatosis" EXACT
    "Sturge-Weber-Dimitri syndrome" EXACT
    "Sturge-Weber-Krabbe angiomatosis" EXACT
    "Sturge-Weber-Krabbe syndrome" EXACT
    "SWS" EXACT OMO:0003012
Secondary IDs
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GARD:7706
ICD10CM:Q85.89
MESH:D013341
MIM:185300
NCI:C3391
ORDO:3205
SNOMEDCT_US_2023_03_01:157030004
UMLS_CUI:C0038505