loading...| Preferred Name |
Sturge-Weber syndrome |
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| Synonyms |
meningeal capillary angiomatosis encephalofacial angiomatosis fourth phacomatosis Sturge-Weber-Krabbe angiomatosis leptomeningeal angiomatosis Sturge-Weber-Krabbe syndrome Sturge-Weber-Dimitri syndrome encephalotrigeminal angiomatosis SWS |
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| 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. |
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| ID |
http://purl.obolibrary.org/obo/DOID_0111563 |
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| database_cross_reference |
OMIM:185300 UMLS_CUI:C0038505 SNOMEDCT_US_2018_03_01:19886006 MESH:D013341 GARD:7706 ORDO:3205 |
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| fromILAE |
true |
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| has exact synonym |
meningeal capillary angiomatosis encephalofacial angiomatosis fourth phacomatosis Sturge-Weber-Krabbe angiomatosis leptomeningeal angiomatosis Sturge-Weber-Krabbe syndrome Sturge-Weber-Dimitri syndrome encephalotrigeminal angiomatosis SWS |
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| has_obo_namespace |
disease_ontology |
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| hasDefinition |
Sturge Weber syndrome is characterized by angiomas of the face, eye and leptomeninges. It is caused by an acquired somatic gene abnormality resulting in a gain of function in the GNAQ gene, in progenitor vascular cells. |
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| id |
DOID:0111563 |
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| imported from | ||
| label |
Sturge-Weber syndrome |
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| notation |
DOID:0111563 |
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| prefLabel |
Sturge-Weber syndrome |
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| 文本定义 |
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. |
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| subClassOf |