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ONTOLOGY REPORT - ANNOTATIONS


Term:retinal vasculopathy with cerebral leukodystrophy
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Accession:DOID:0111567 term browser browse the term
Definition:Retinal vasculopathy with cerebral leukodystrophy is an adult-onset autosomal dominant disorder involving the microvessels of the brain and resulting in central nervous system degeneration with progressive loss of vision, stroke, motor impairment, and cognitive decline. Death occurs in most patients 5 to 10 years after onset. A subset of affected individuals have systemic vascular involvement evidenced by Raynaud's phenomenon, micronodular cirrhosis, and glomerular dysfunction. RVCL is caused by heterozygous mutation in the TREX1 gene on chromosome 3p21. (OMIM)
Synonyms:exact_synonym: CRV;   RVCL;   RVCL-S;   Retinopathy, Vascular, With Cerebral And Renal Involvement And Raynaud And Migraine Phenomena;   hereditary cerebroretinal vasculopathy;   retinal vasculopathy and cerebral leukoencephalopathy;   retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
 primary_id: MESH:C566007
 alt_id: OMIM:192315
 xref: GARD:1217;   ORDO:247691
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retinal vasculopathy with cerebral leukodystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atrip ATR interacting protein JBrowse link 8 117,797,954 117,811,989 RGD:8554872
G Trex1 three prime repair exonuclease 1 JBrowse link 8 117,796,127 117,797,427 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15469
    disease of anatomical entity 14820
      cardiovascular system disease 4172
        vascular disease 3209
          retinal vasculopathy with cerebral leukodystrophy 2
Path 2
Term Annotations click to browse term
  disease 15469
    disease of anatomical entity 14820
      nervous system disease 10221
        central nervous system disease 8352
          brain disease 7703
            Metabolic Brain Diseases 477
              Metabolic Brain Diseases, Inborn 411
                Hereditary Central Nervous System Demyelinating Diseases 39
                  retinal vasculopathy with cerebral leukodystrophy 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.