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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 4
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Accession:DOID:0111411 term browser browse the term
Definition:An exudative vitreoretinopathy that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in LRP5 on chromosome 11q13.2. (DO)
Synonyms:exact_synonym: EVR4
 narrow_synonym: exudative vitreoretinopathy 4, autosomal dominant;   exudative vitreoretinopathy 4, autosomal recessive;   exudative vitreoretinopathy 4, digenic
 primary_id: MESH:C566619
 alt_id: OMIM:601813
For additional species annotation, visit the Alliance of Genome Resources.



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exudative vitreoretinopathy 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrp5 LDL receptor related protein 5 ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 4, autosomal recessive
ClinVar Annotator: match by term: Exudative vitreoretinopathy 4, autosomal dominant
ClinVar Annotator: match by term: Exudative vitreoretinopathy 4, digenic
OMIM
ClinVar
PMID:8832721 PMID:9056564 PMID:9831343 PMID:11719191 PMID:11956231 More... NCBI chr 1:200,814,247...200,917,581
Ensembl chr 1:200,814,250...200,917,581
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    sensory system disease 5680
      eye disease 2766
        Hereditary Eye Diseases 638
          exudative vitreoretinopathy 21
            exudative vitreoretinopathy 4 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        sensory system disease 5680
          eye disease 2766
            retinal disease 839
              retinal vascular disease 173
                exudative vitreoretinopathy 21
                  exudative vitreoretinopathy 4 1
paths to the root