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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 9
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Accession:DOID:0111442 term browser browse the term
Definition:An optic atrophy characterized by early childhood onset of decreased visual acuity and pallor of the optic discs, severely reduced visual acuity, paracentral scotoma, red-green dyschromatopsia, and temporal optic atrophy at the fundus that has_material_basis_in homozygous or compound heterozygous mutation in ACO2 on chromosome 22q13.2. (DO)
Synonyms:exact_synonym: OPA9
 broad_synonym: ACO2-RELATED DISORDER
 primary_id: OMIM:616289
For additional species annotation, visit the Alliance of Genome Resources.



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optic atrophy 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aco2 aconitase 2 ISO ClinVar Annotator: match by term: ACO2-related disorder | ClinVar Annotator: match by term: Optic atrophy 9 OMIM
ClinVar
PMID:25351951 PMID:25741868 PMID:28492532 PMID:30689204 PMID:32519519 NCBI chr 7:113,385,677...113,428,794
Ensembl chr 7:113,385,646...113,428,261
JBrowse link
G Polr3h RNA polymerase III subunit H ISO ClinVar Annotator: match by term: Optic atrophy 9 ClinVar PMID:25351951 PMID:25741868 NCBI chr 7:113,429,434...113,439,743
Ensembl chr 7:113,429,451...113,439,778
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    sensory system disease 6469
      eye disease 3172
        Hereditary Eye Diseases 755
          Hereditary Optic Atrophies 71
            optic atrophy 9 2
Path 2
Term Annotations click to browse term
  disease 18030
    disease of anatomical entity 17410
      nervous system disease 13079
        peripheral nervous system disease 2975
          neuropathy 2767
            cranial nerve disease 528
              optic nerve disease 282
                optic atrophy 176
                  Hereditary Optic Atrophies 71
                    optic atrophy 9 2
paths to the root