loading...| Preferred Name |
Sturge-Weber syndrome |
|
| Synonyms |
encephalofacial angiomatosis Sturge-Weber-Dimitri syndrome SWS fourth phacomatosis encephalotrigeminal angiomatosis meningeal capillary angiomatosis Sturge-Weber-Krabbe angiomatosis Sturge-Weber-Krabbe syndrome leptomeningeal angiomatosis |
|
| 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 GNAQ on chromosome 9q21.2. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_0111563 |
|
| database_cross_reference |
SNOMEDCT_US_2021_09_01:157030004 MESH:D013341 ICD10CM:Q85.8 ORDO:3205 OMIM:185300 UMLS_CUI:C0038505 GARD:7706 NCI:C3391 |
|
| 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 GNAQ on chromosome 9q21.2. |
|
| has_exact_synonym |
encephalofacial angiomatosis Sturge-Weber-Dimitri syndrome SWS fourth phacomatosis encephalotrigeminal angiomatosis meningeal capillary angiomatosis Sturge-Weber-Krabbe angiomatosis Sturge-Weber-Krabbe syndrome leptomeningeal angiomatosis |
|
| has_obo_namespace |
disease_ontology |
|
| IAO_0000115 |
A vascular disease characterized by intracranial vascular anomaly, leptomeningeal angiomatosis, facial cutaneous vascular malformations, and glaucoma that has_material_basis_in somatic mutation in GNAQ on chromosome 9q21.2. |
|
| id |
DOID:0111563 |
|
| label |
Sturge-Weber syndrome |
|
| notation |
DOID:0111563 |
|
| note |
A vascular disease characterized by intracranial vascular anomaly, leptomeningeal angiomatosis, facial cutaneous vascular malformations, and glaucoma that has_material_basis_in somatic mutation in GNAQ on chromosome 9q21.2. |
|
| prefLabel |
Sturge-Weber syndrome |
|
| subClassOf |