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Sturge-Weber syndrome
Summary
- Synonym
-
- SWS
- Sturge-Weber-Dimitri syndrome
- Sturge-Weber-Krabbe angiomatosis
- Sturge-Weber-Krabbe syndrome
- encephalofacial angiomatosis
- encephalotrigeminal angiomatosis
- fourth phacomatosis
- leptomeningeal angiomatosis
- meningeal capillary angiomatosis
- 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.
- Super Class
- vascular disease
External Links
- Disease Ontology
- DOID:0111563
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- GARD
- WikiPathways (from TogoID)
Related Genes
