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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:exudative vitreoretinopathy 5
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Accession:DOID:0111408 term browser browse the term
Definition:An exudative vitreoretinopathy that has_material_basis_in heterozygous mutation in TSPAN12 on chromosome 7q31.31. (DO)
Synonyms:exact_synonym: EVR5
 primary_id: MESH:C567648
 alt_id: OMIM:613310
For additional species annotation, visit the Alliance of Genome Resources.



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exudative vitreoretinopathy 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tspan12 tetraspanin 12 ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 5 OMIM
ClinVar
PMID:15665352 PMID:20159111 PMID:20159112 PMID:21334594 PMID:21552475 More... NCBI chr 4:50,313,768...50,389,246
Ensembl chr 4:50,313,772...50,389,246
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    sensory system disease 6469
      eye disease 3172
        Eye Abnormalities 458
          exudative vitreoretinopathy 21
            exudative vitreoretinopathy 5 1
Path 2
Term Annotations click to browse term
  disease 18030
    disease of anatomical entity 17410
      nervous system disease 13079
        sensory system disease 6469
          eye disease 3172
            retinal disease 865
              retinal vascular disease 176
                exudative vitreoretinopathy 21
                  exudative vitreoretinopathy 5 1
paths to the root