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| Term | retinal vasculopathy with cerebral leukodystrophy | ID (Ontology) | DOID:0111567 (Human Disease) | |||||||||||||||||||||||
| Definition | A vascular disease characterized by adult onset of microvascular endotheliopathy resulting in central nervous system degeneration with progressive loss of vision, stroke, motor impairment, and cognitive decline that has_material_basis_in heterozygous mutation in TREX1 on chromosome 3p21.31. | |||||||||||||||||||||||||
| Also Known As | "CRV" ; "hereditary cerebroretinal vasculopathy" ; "retinal vasculopathy and cerebral leukoencephalopathy" (for all, see Synonyms field below) | |||||||||||||||||||||||||
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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autosomal genetic disease |__autosomal dominant disease__ cardiovascular system disease | |__vascular disease____________| retinal vasculopathy with cerebral leukodystrophy 8 rec. |
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autosomal dominant disease vascular disease |
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External Crossreferences & Linkouts
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GARD:1217 MESH:C566007 MIM:192315 ORDO:247691 SNOMEDCT_US_2023_03_01:783787000 UMLS_CUI:C1860518 |
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