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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 the OPA3 gene 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: MIM:165300
 xref: GARD:10203;   ORDO:67036



show annotations for term's descendants           Sort by:
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Optic atrophy 3 | ClinVar Annotator: match by term: Optic atrophy, cataract, and neurologic disorder
OMIM
CTD
ClinVar
PMID:13703570 PMID:15342707 PMID:20301646 PMID:24136862 PMID:25159689 More... NCBI chr 1:78,879,612...78,910,453
Ensembl chr 1:78,880,114...78,901,469
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 19076
    sensory system disease 7183
      eye disease 3549
        lens disease 469
          cataract 459
            optic atrophy 3 1
Path 2
Term Annotations click to browse term
  disease 19076
    disease of anatomical entity 18367
      nervous system disease 14218
        peripheral nervous system disease 4250
          neuropathy 4035
            cranial nerve disease 694
              optic nerve disease 375
                optic atrophy 193
                  Hereditary Optic Atrophies 83
                    optic atrophy 3 1
paths to the root