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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 7
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Accession:DOID:0080264 term browser browse the term
Definition:An exudative vitreoretinopathy that has_material_basis_in heterozygous mutation in the CTNNB1 gene on chromosome 3p22.1. (DO)
Synonyms:exact_synonym: EVR7
 primary_id: OMIM:617572


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exudative vitreoretinopathy 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CTNNB1 catenin beta 1 ISO ClinVar Annotator: match by term: EXUDATIVE VITREORETINOPATHY 7 | ClinVar Annotator: match by term: Exudative vitreoretinopathy 7 OMIM
ClinVar		 PMID:23033978 PMID:24614104 PMID:25326635 PMID:25326669 PMID:25741868 More... NCBI chr 3:41,104,940...41,145,934
Ensembl chr 3:41,373,726...41,414,030 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    sensory system disease 6624
      eye disease 3375
        Hereditary Eye Diseases 1079
          exudative vitreoretinopathy 22
            exudative vitreoretinopathy 7 1
Path 2
Term Annotations click to browse term
  disease 17996
    Pathological Conditions, Signs and Symptoms 12035
      Signs and Symptoms 9967
        Neurologic Manifestations 9644
          sensory system disease 6624
            eye disease 3375
              retinal disease 1175
                retinal vascular disease 197
                  exudative vitreoretinopathy 22
                    exudative vitreoretinopathy 7 1
paths to the root