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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 atrophic macular degeneration
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Accession:DOID:0112157 term browser browse the term
Definition:A macular degeneration characterized by macular atrophy causing progressive loss of visual acuity with minimal peripheral visual impairment that has_material_basis_in hemizygous mutation in RPGR on chromosome Xp11.4. (DO)
Synonyms:primary_id: OMIM:300834
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 OMIM:300834 OMIM
ClinVar
PMID:12160730 NCBI chr  X:14,271,012...14,331,745
Ensembl chr  X:14,271,017...14,331,486
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17129
    Diseases of the Aged 1288
      macular degeneration 144
        X-Linked Macular Dystrophy 1
          X-linked atrophic macular degeneration 1
Path 2
Term Annotations click to browse term
  disease 17129
    disease of anatomical entity 16476
      nervous system disease 12074
        sensory system disease 5584
          eye disease 2725
            eye degenerative disease 507
              retinal degeneration 505
                macular degeneration 144
                  X-Linked Macular Dystrophy 1
                    X-linked atrophic macular degeneration 1
paths to the root