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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.


show annotations for term's descendants           Sort by:
 
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, digenic
ClinVar Annotator: match by term: Exudative vitreoretinopathy 4, autosomal dominant
OMIM
ClinVar
PMID:8832721, PMID:9056564, PMID:9831343, PMID:11719191, PMID:11956231, PMID:12054167, PMID:12579474, PMID:14507768, PMID:15024691, PMID:15346351, PMID:15824851, PMID:15981244, PMID:16252235, PMID:18602879, PMID:20034086, PMID:20652025, PMID:22487062, PMID:25711638, PMID:25741868, PMID:28041643, PMID:28111184, PMID:28492532, PMID:28677207 NCBI chr 1:218,816,833...218,920,147
Ensembl chr 1:218,816,841...218,920,094
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    sensory system disease 5231
      eye disease 2664
        Hereditary Eye Diseases 580
          exudative vitreoretinopathy 24
            exudative vitreoretinopathy 4 1
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        sensory system disease 5231
          eye disease 2664
            retinal disease 783
              retinal vascular disease 171
                exudative vitreoretinopathy 24
                  exudative vitreoretinopathy 4 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.