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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:Hyaloideoretinal Degeneration of Wagner
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Accession:DOID:9005830 term browser browse the term
Synonyms:exact_synonym: ERVR;   Erosive vitreoretinopathy;   VCAN-RELATED CONDITION;   Vcan-Related Vitreoretinopathy;   WAGNER VITREORETINOPATHY;   WGN1;   WGVRP;   Wagner Disease;   Wagner Syndrome;   Wagner Syndrome 1;   Wagner syndrome type 1;   Wagner vitreoretinal degeneration
 primary_id: MESH:C536075;   RDO:0001499
 alt_id: MIM:143200


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Hyaloideoretinal Degeneration of Wagner term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col2a1 collagen type II alpha 1 chain ISO DNA:frameshift mutation:exon:p.C57X (human)
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:exon:p.G67D (human)		 CTD
RGD		 PMID:11812423 PMID:11812423 PMID:8317498 RGD:8657385, RGD:8657389 NCBI chr 7:129,098,489...129,127,560
Ensembl chr 7:129,098,786...129,127,546 		JBrowse link
G Vcan versican ISO DNA:SNPs:intron:c.4004-5T>C, c.4004-5T>A, c.4004-1G>A (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: VCAN-related condition | ClinVar Annotator: match by term: Wagner syndrome		 OMIM
CTD
ClinVar
RGD		 PMID:2319589 PMID:10333105 PMID:16043844 PMID:16199547 PMID:16636652 More... RGD:1598496 NCBI chr 2:20,761,718...20,860,637
Ensembl chr 2:20,761,718...20,860,637 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    sensory system disease 7331
      eye disease 3696
        retinal disease 1401
          retinal degeneration 854
            Hyaloideoretinal Degeneration of Wagner 2
Path 2
Term Annotations click to browse term
  disease 19099
    Pathological Conditions, Signs and Symptoms 13605
      Signs and Symptoms 11184
        Neurologic Manifestations 10420
          sensory system disease 7331
            eye disease 3696
              eye degenerative disease 856
                retinal degeneration 854
                  Hyaloideoretinal Degeneration of Wagner 2
paths to the root