Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   


RGD uses the Human Disease Ontology (DO, 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
go back to main search page
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
 primary_id: OMIM:616289
 alt_id: DOID:9005196
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants           Sort by:
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: Optic atrophy 9
ClinVar Annotator: match by term: OPTIC ATROPHY 9
PMID:25351951, PMID:25741868, PMID:28492532 NCBI chr 7:123,102,493...123,145,608
Ensembl chr 7:123,102,468...123,145,635
JBrowse link
G Polr3h RNA polymerase III subunit H ISO ClinVar Annotator: match by term: OPTIC ATROPHY 9 ClinVar PMID:25351951 NCBI chr 7:123,146,248...123,156,558
Ensembl chr 7:123,146,249...123,156,558
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    sensory system disease 5162
      eye disease 2593
        Hereditary Eye Diseases 572
          Hereditary Optic Atrophies 62
            optic atrophy 9 2
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        peripheral nervous system disease 2472
          neuropathy 2293
            cranial nerve disease 472
              optic nerve disease 240
                optic atrophy 131
                  Hereditary Optic Atrophies 62
                    optic atrophy 9 2
paths to the root


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.