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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 the ACO2 gene on chromosome 22q13.2. (DO)
Synonyms:exact_synonym: OPA9
 narrow_synonym: OPTIC ATROPHY 9, AUTOSOMAL RECESSIVE
 broad_synonym: ACO2-RELATED CONDITION;   ACO2-RELATED DISORDER
 primary_id: OMIM:616289


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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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: ACO2-related condition | ClinVar Annotator: match by term: ACO2-related disorder | ClinVar Annotator: match by term: OPTIC ATROPHY 9, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Optic atrophy 9		 OMIM
CTD
ClinVar		 PMID:25351951 PMID:25741868 PMID:27528516 PMID:28492532 PMID:30689204 More... 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: ACO2-related condition | ClinVar Annotator: match by term: OPTIC ATROPHY 9, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Optic atrophy 9 ClinVar PMID:25351951 PMID:25741868 PMID:28492532 PMID:32449285 PMID:34056600 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 18969
    sensory system disease 6961
      eye disease 3492
        Hereditary Eye Diseases 1101
          Hereditary Optic Atrophies 82
            optic atrophy 9 2
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        Neurologic Manifestations 10055
          sensory system disease 6961
            eye disease 3492
              optic nerve disease 373
                optic atrophy 191
                  Hereditary Optic Atrophies 82
                    optic atrophy 9 2
paths to the root