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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:X-Linked Macular Dystrophy
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Accession:DOID:9001007 term browser browse the term
Synonyms:primary_id: MESH:C564110
 alt_id: OMIM:309100
For additional species annotation, visit the Alliance of Genome Resources.



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X-linked atrophic macular degeneration 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 term: Macular degeneration, X-linked atrophic OMIM
ClinVar
PMID:12160730 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr  X:12,566,447...12,628,171
Ensembl chr  X:12,566,645...12,747,882
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18215
    Diseases of the Aged 1324
      macular degeneration 149
        X-Linked Macular Dystrophy 1
          X-linked atrophic macular degeneration 1
Path 2
Term Annotations click to browse term
  disease 18215
    disease of anatomical entity 17576
      nervous system disease 13208
        sensory system disease 6435
          eye disease 2964
            eye degenerative disease 536
              retinal degeneration 534
                macular degeneration 149
                  X-Linked Macular Dystrophy 1
                    X-linked atrophic macular degeneration 1
paths to the root