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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 CTNNB1 on chromosome 3p22.1. (DO)
Synonyms:exact_synonym: EVR7
 primary_id: OMIM:617572
For additional species annotation, visit the Alliance of Genome Resources.


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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
ClinVar
OMIM
PMID:25741868 PMID:26350204 PMID:27915094 PMID:28575650 NCBI chr 8:129,601,511...129,628,378
Ensembl chr 8:129,617,812...129,627,372
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    sensory system disease 5238
      eye disease 2637
        Eye Abnormalities 357
          exudative vitreoretinopathy 21
            exudative vitreoretinopathy 7 1
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      nervous system disease 11853
        sensory system disease 5238
          eye disease 2637
            retinal disease 805
              retinal vascular disease 173
                exudative vitreoretinopathy 21
                  exudative vitreoretinopathy 7 1
paths to the root