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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: MIM:309100



show annotations for term's descendants           Sort by:
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:8673101 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 19099
    Diseases of the Aged 1475
      macular degeneration 161
        X-Linked Macular Dystrophy 1
          X-linked atrophic macular degeneration 1
Path 2
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      nervous system disease 14334
        Neurologic Manifestations 10420
          sensory system disease 7331
            eye disease 3696
              eye degenerative disease 856
                retinal degeneration 854
                  macular degeneration 161
                    X-Linked Macular Dystrophy 1
                      X-linked atrophic macular degeneration 1
paths to the root