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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
Definition:This is a hereditary autosomal dominant disorder characterized by retinal detachment due to retinal tearing at the time of posterior vitreous detachment and PATHOLOGICAL MYOPIA
Synonyms:exact_synonym: DRRD
 broad_synonym: rhegmatogenous retinal detachment
 primary_id: MESH:C563710
 xref: EFO:0005240



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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...129,127,560
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 19141
    sensory system disease 7375
      eye disease 3722
        Hereditary Eye Diseases 1130
          Rhegmatogenous Retinal Detachment, Autosomal Dominant 1
Path 2
Term Annotations click to browse term
  disease 19141
    disease of anatomical entity 18453
      nervous system disease 14360
        Neurologic Manifestations 10450
          sensory system disease 7375
            eye disease 3722
              retinal disease 1459
                retinal detachment 36
                  Rhegmatogenous Retinal Detachment, Autosomal Dominant 1
paths to the root