Preferred Name |
Sturge-Weber syndrome |
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Synonyms |
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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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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. |
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imported from | ||
label |
Sturge-Weber syndrome |
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prefixIRI |
DOID:0111563 |
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prefLabel |
Sturge-Weber syndrome |
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subClassOf |
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