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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:optic atrophy 2
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Accession:DOID:0111443 term browser browse the term
Definition:An optic atrophy that has_material_basis_in variation in a region on chromosome Xp11.4-p11.21. (DO)
Synonyms:exact_synonym: OPA2;   OPTIC ATROPHY, NON-LEBER TYPE, WITH EARLY ONSET;   X-linked optic atrophy;   X-linked optic atrophy 2
 primary_id: MESH:C537125
 alt_id: OMIM:311050



show annotations for term's descendants           Sort by:
optic atrophy 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wdr45 WD repeat domain 45 ISO ClinVar Annotator: match by term: Optic atrophy 2 ClinVar NCBI chr  X:14,776,280...14,782,202
Ensembl chr  X:14,776,293...14,782,202
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21142
    sensory system disease 6892
      eye disease 3450
        Hereditary Eye Diseases 1085
          Hereditary Optic Atrophies 79
            optic atrophy 2 1
Path 2
Term Annotations click to browse term
  disease 21142
    disease of anatomical entity 18190
      nervous system disease 14019
        Neurologic Manifestations 9994
          sensory system disease 6892
            eye disease 3450
              optic nerve disease 366
                optic atrophy 185
                  Hereditary Optic Atrophies 79
                    optic atrophy 2 1
paths to the root