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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: Vasculopathy, retinal, with cerebral leukodystrophy
ClinVar Annotator: match by term: Retinopathy, vascular, with cerebral and renal involvement and Raynaud and migraine phenomena
ClinVar Annotator: match by term: Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
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 ClinVar Annotator: match by term: Retinopathy, vascular, with cerebral and renal involvement and Raynaud and migraine phenomena
ClinVar Annotator: match by term: Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
ClinVar Annotator: match by term: Vasculopathy, retinal, with cerebral leukodystrophy
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:192315
OMIM
ClinVar
CTD
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 17435
    sensory system disease 5712
      eye disease 2800
        retinal disease 841
          retinal vasculopathy with cerebral leukodystrophy 2
Path 2
Term Annotations click to browse term
  disease 17435
    disease of anatomical entity 16766
      nervous system disease 12209
        central nervous system disease 10477
          brain disease 9840
            Metabolic Brain Diseases 613
              Metabolic Brain Diseases, Inborn 542
                Hereditary Central Nervous System Demyelinating Diseases 53
                  retinal vasculopathy with cerebral leukodystrophy 2
paths to the root