Sturge-Weber Syndrome
Disease ID: disease_node_7132
Connections displayed (default: 10).
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| Dbxref | GARD:7706, ICD10CM:Q85.89, MESH:D013341, MIM:185300, NCI:C3391, ORDO:3205, SNOMEDCT_US_2023_03_01:157030004, UMLS_CUI:C0038505 |
|---|---|
| Subclassof | DOID_178 |
| Data Source | DOID, MESH |
| Synonyms | SWS, Sturge-Weber-Dimitri syndrome, Sturge-Weber-Krabbe angiomatosis, Sturge-Weber-Krabbe syndrome, encephalofacial angiomatosis, encephalotrigeminal angiomatosis, fourth phacomatosis, leptomeningeal angiomatosis, meningeal capillary angiomatosis |
| Mesh Id | D013341 |
| Mesh Label | Sturge-Weber Syndrome |
| Mesh Subclassof | D006391, D020752, D000798 |
| Doid Label | Sturge-Weber syndrome |
| Doid Description | 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. |
| Disease Node Id | disease_node_7132 |
| Doid Id | DOID_0111563 |
| Label | Sturge-Weber Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Spinal Cord Vascular Diseases(ID:disease_node_10673) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Aneurysm(ID:disease_node_1214) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Spinal Cord Ischemia(ID:disease_node_10677) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Vascular Diseases(ID:disease_node_7851) (Disease)