Sturge-Weber syndrome

Term ID

DOID:0111563

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
• MIM:185300
• NCI:C3391
• ORDO:3205
• SNOMEDCT_US_2023_03_01:157030004
• UMLS_CUI:C0038505

Ontology

Human Disease   ( DOID:0111563 )