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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:Macular Dystrophy, X-Linked
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Accession:DOID:9001007 term browser browse the term
Synonyms:primary_id: MESH:C564110;   RDO:0013180
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Macular Degeneration, X-Linked Atrophic term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rpgr retinitis pigmentosa GTPase regulator ISO ClinVar Annotator: match by OMIM:300834 OMIM
ClinVar
PMID:12160730 NCBI chr  X:14,271,012...14,331,745
Ensembl chr  X:14,271,017...14,331,486
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    Diseases of the Aged 1249
      macular degeneration 157
        Macular Dystrophy, X-Linked 1
          Macular Degeneration, X-Linked Atrophic 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        sensory system disease 5213
          eye disease 2652
            eye degenerative disease 468
              retinal degeneration 466
                macular degeneration 157
                  Macular Dystrophy, X-Linked 1
                    Macular Degeneration, X-Linked Atrophic 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.