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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 the LRP5 gene 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


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exudative vitreoretinopathy 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrp5 low density lipoprotein receptor-related protein 5 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Exudative vitreoretinopathy 4 | ClinVar Annotator: match by term: Exudative vitreoretinopathy 4, autosomal dominant | ClinVar Annotator: match by term: Exudative vitreoretinopathy 4, autosomal recessive | ClinVar Annotator: match by term: Exudative vitreoretinopathy 4, digenic		 OMIM
CTD
ClinVar		 PMID:8832721 PMID:9056564 PMID:9536098 PMID:9831343 PMID:11719191 More... NCBI chr19:3,634,825...3,736,574
Ensembl chr19:3,634,828...3,736,564 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18301
    sensory system disease 6747
      eye disease 3460
        Hereditary Eye Diseases 1131
          exudative vitreoretinopathy 22
            exudative vitreoretinopathy 4 1
Path 2
Term Annotations click to browse term
  disease 18301
    Pathological Conditions, Signs and Symptoms 12359
      Signs and Symptoms 10135
        Neurologic Manifestations 9790
          sensory system disease 6747
            eye disease 3460
              retinal disease 1230
                retinal vascular disease 212
                  exudative vitreoretinopathy 22
                    exudative vitreoretinopathy 4 1
paths to the root