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exudative vitreoretinopathy 5 - Ontology Report - Rat Genome Database

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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 the TSPAN12 gene on chromosome 7q31.31. (DO)
Synonyms:exact_synonym: EVR5
 broad_synonym: TSPAN12-related condition
 xref: MESH:C567648;   MIM:613310;   MONDO:0013218

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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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Exudative vitreoretinopathy 5 | ClinVar Annotator: match by term: TSPAN12-related condition		 OMIM
CTD
ClinVar		 PMID:15665352 PMID:20159111 PMID:20159112 PMID:21334594 PMID:21552475 More... NCBI chr 4:51,279,562...51,355,030
Ensembl chr 4:50,313,772...50,389,246 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19140
    sensory system disease 7381
      eye disease 3728
        Hereditary Eye Diseases 1130
          exudative vitreoretinopathy 22
            exudative vitreoretinopathy 5 1
Path 2
Term Annotations click to browse term
  disease 19140
    Pathological Conditions, Signs and Symptoms 13626
      Signs and Symptoms 11222
        Neurologic Manifestations 10464
          sensory system disease 7381
            eye disease 3728
              retinal disease 1459
                retinal vascular disease 216
                  exudative vitreoretinopathy 22
                    exudative vitreoretinopathy 5 1
paths to the root