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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 3
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Accession:DOID:0111433 term browser browse the term
Definition:An optic atrophy characterized by optic atrophy and cataract that has_material_basis_in heterozygous mutation in OPA3 on chromosome 19q13.32. (DO)
Synonyms:exact_synonym: ADOAC;   OPA3;   OPA3, autosomal dominant;   autosomal dominant optic atrophy type 3;   optic atrophy 3 with cataract;   optic atrophy 3, autosomal dominant;   optic atrophy and cataract, autosomal dominant;   optic atrophy, cataract, and neurologic disorder
 primary_id: MESH:C537128
 alt_id: OMIM:165300
 xref: GARD:10203;   ORDO:67036
For additional species annotation, visit the Alliance of Genome Resources.


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optic atrophy 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Opa3 outer mitochondrial membrane lipid metabolism regulator OPA3 ISO ClinVar Annotator: match by OMIM:165300
ClinVar Annotator: match by term: Optic atrophy and cataract, autosomal dominant
OMIM
ClinVar
PMID:15342707, PMID:24136862, PMID:25159689, PMID:25205859, PMID:25741868, PMID:28081242, PMID:28492532 NCBI chr 1:80,141,630...80,160,145
Ensembl chr 1:80,141,630...80,160,145
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    sensory system disease 5231
      eye disease 2664
        lens disease 222
          cataract 215
            optic atrophy 3 1
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        peripheral nervous system disease 2500
          neuropathy 2320
            cranial nerve disease 477
              optic nerve disease 244
                optic atrophy 134
                  Hereditary Optic Atrophies 63
                    optic atrophy 3 1
paths to the root

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