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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: OMIM: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 LOC130064709 ATAC-STARR-seq lymphoblastoid active region 14802 IAGP ClinVar Annotator: match by term: Optic atrophy 3
ClinVar Annotator: match by term: Optic atrophy, cataract, and neurologic disorder		 ClinVar PMID:25741868 PMID:28492532 NCBI chr19:45,584,682...45,584,861 JBrowse link
G OPA3 outer mitochondrial membrane lipid metabolism regulator OPA3 IAGP
EXP		 ClinVar Annotator: match by term: Optic atrophy 3 | ClinVar Annotator: match by term: Optic atrophy, cataract, and neurologic disorder
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:13703570 PMID:15342707 PMID:20301646 PMID:24136862 PMID:25159689 More... NCBI chr19:45,527,427...45,584,802
Ensembl chr19:45,527,767...45,602,212 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    sensory system disease 9738
      eye disease 4946
        lens disease 594
          cataract 573
            optic atrophy 3 2
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32348
      nervous system disease 26239
        peripheral nervous system disease 5386
          neuropathy 5133
            cranial nerve disease 882
              optic nerve disease 446
                optic atrophy 257
                  Hereditary Optic Atrophies 128
                    optic atrophy 3 2
paths to the root