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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:retinal vasculopathy with cerebral leukodystrophy
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Accession:DOID:0111567 term browser browse the term
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. (DO)
Synonyms:exact_synonym: CRV;   RVCL;   RVCL-S;   RVCLS;   hereditary cerebroretinal vasculopathy;   retinal vasculopathy and cerebral leukoencephalopathy;   retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations;   vascular retinopathy with cerebral and renal involvement and Raynaud and migraine phenomena
 primary_id: MESH:C566007
 alt_id: OMIM:192315
 xref: GARD:1217;   ORDO:247691
For additional species annotation, visit the Alliance of Genome Resources.



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retinal vasculopathy with cerebral leukodystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atrip ATR interacting protein ISO ClinVar Annotator: match by term: Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations | ClinVar Annotator: match by term: Retinopathy, vascular, with cerebral and renal involvement and Raynaud and migraine phenomena | ClinVar Annotator: match by term: Vasculopathy, retinal, with cerebral leukodystrophy ClinVar PMID:1821204 PMID:3174024 PMID:9371916 PMID:16845398 PMID:17293595 More... NCBI chr 8:109,708,440...109,722,511
Ensembl chr 8:109,708,440...109,722,477
JBrowse link
G Trex1 three prime repair exonuclease 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations | ClinVar Annotator: match by term: Retinopathy, vascular, with cerebral and renal involvement and Raynaud and migraine phenomena | ClinVar Annotator: match by term: Vasculopathy, retinal, with cerebral leukodystrophy
OMIM
CTD
ClinVar
PMID:1821204 PMID:3174024 PMID:9371916 PMID:16845398 PMID:17293595 More... NCBI chr 8:109,706,613...109,707,913
Ensembl chr 8:109,706,613...109,708,796
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    sensory system disease 6469
      eye disease 3172
        retinal disease 865
          retinal vasculopathy with cerebral leukodystrophy 2
Path 2
Term Annotations click to browse term
  disease 18030
    disease of anatomical entity 17410
      nervous system disease 13079
        central nervous system disease 11253
          brain disease 10538
            Metabolic Brain Diseases 845
              Metabolic Brain Diseases, Inborn 745
                Hereditary Central Nervous System Demyelinating Diseases 74
                  retinal vasculopathy with cerebral leukodystrophy 2
paths to the root