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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
ClinVar Annotator: match by term: Optic atrophy 3
OMIM
ClinVar
PMID:15342707 PMID:24136862 PMID:25159689 PMID:25205859 PMID:25741868 More... NCBI chr 1:78,881,392...78,899,549
Ensembl chr 1:78,880,114...78,901,469
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17251
    sensory system disease 5658
      eye disease 2766
        lens disease 219
          cataract 212
            optic atrophy 3 1
Path 2
Term Annotations click to browse term
  disease 17251
    disease of anatomical entity 16595
      nervous system disease 12130
        peripheral nervous system disease 2557
          neuropathy 2354
            cranial nerve disease 484
              optic nerve disease 270
                optic atrophy 165
                  Hereditary Optic Atrophies 64
                    optic atrophy 3 1
paths to the root