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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:Rhegmatogenous Retinal Detachment, Autosomal Dominant
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Accession:DOID:9007109 term browser browse the term
Synonyms:exact_synonym: DRRD
 primary_id: MESH:C563710
 alt_id: RDO:0012899
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
Rhegmatogenous Retinal Detachment, Autosomal Dominant term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col2a1 collagen type II alpha 1 chain ISO DNA:missense mutation:exon:p.G318R (human)
ClinVar Annotator: match by term: Autosomal dominant rhegmatogenous retinal detachment
ClinVar
RGD
PMID:7695699 PMID:8218237 PMID:9016532 PMID:10982970 PMID:12544472 More... RGD:8657388 NCBI chr 7:129,098,489...129,127,620
Ensembl chr 7:129,098,786...129,127,546
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18162
    sensory system disease 6412
      eye disease 2937
        Hereditary Eye Diseases 759
          Rhegmatogenous Retinal Detachment, Autosomal Dominant 1
Path 2
Term Annotations click to browse term
  disease 18162
    disease of anatomical entity 17537
      nervous system disease 13196
        sensory system disease 6412
          eye disease 2937
            retinal disease 872
              retinal detachment 36
                Rhegmatogenous Retinal Detachment, Autosomal Dominant 1
paths to the root