| Metadata | |
|---|---|
| ID | DOID:0111563 |
| Name | Sturge-Weber syndrome |
| 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. https://ghr.nlm.nih.gov/condition/sturge-weber-syndrome, https://www.ncbi.nlm.nih.gov/pubmed/15165630, https://www.ncbi.nlm.nih.gov/pubmed/23656586 |
| Xrefs |
SNOMEDCT_US_2023_03_01:157030004 |
| Subsets |
DO_rare_slim NCIthesaurus |
| 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] |
| Parent Relationships |
is_a vascular disease |