loading...| Preferred Name |
Sturge-Weber syndrome |
| Synonyms |
SWS |
| Definitions |
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. |
| ID |
http://purl.obolibrary.org/obo/DOID_0111563 |
| database_cross_reference |
ORDO:3205 SNOMEDCT_US_2022_09_01:157030004 NCI:C3391 OMIM:185300 GARD:7706 ICD10CM:Q85.89 UMLS_CUI:C0038505 MESH:D013341 |
| 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. |
| has exact synonym |
SWS Sturge-Weber-Dimitri syndrome encephalotrigeminal angiomatosis leptomeningeal angiomatosis Sturge-Weber-Krabbe angiomatosis meningeal capillary angiomatosis fourth phacomatosis Sturge-Weber-Krabbe syndrome encephalofacial angiomatosis |
| has_obo_namespace |
disease_ontology |
| id |
DOID:0111563 |
| in_subset | |
| label |
Sturge-Weber syndrome |
| notation |
DOID:0111563 |
| prefLabel |
Sturge-Weber syndrome |
| subClassOf |