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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 1
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Accession:DOID:0111441 term browser browse the term
Definition:An optic atrophy characterized by early childhood onset of visual impairment, temporal optic disc pallor, color vision deficits, and centrocecal scotoma of variable density that has_material_basis_in heterozygous mutation in OPA1 on chromosome 3q29. (DO)
Synonyms:exact_synonym: Dominant Optic Atrophy;   Juvenile Optic Atrophies;   Juvenile Optic Atrophy;   Kjer Optic Atrophy;   Kjer Type Optic Atrophy;   Kjer's Optic Atrophy;   Kjer-Type Optic Atrophies;   Kjers Optic Atrophy;   OAK;   OPA1;   autosomal dominant optic atrophy Kjer type;   dominant optic atrophies;   hereditary optic atrophy, autosomal dominant;   hereditary optic atrophy, dominant;   optic atrophy type 1;   optic atrophy, autosomal dominant
 primary_id: MESH:D029241
 alt_id: OMIM:165500
 xref: NCI:C169000;   NCI:C84577
For additional species annotation, visit the Alliance of Genome Resources.


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optic atrophy 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Opa1 OPA1, mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: Optic Atrophy Type 1
ClinVar Annotator: match by term: Kjer-type optic atrophy
ClinVar Annotator: match by term: Dominant hereditary optic atrophy
ClinVar Annotator: match by term: Optic Atrophy, Dominant
DNA:nonsense mutation:exon:p.Q285X (mouse)
DNA:SNPs, deletions:exons:multiple
DNA:deletions, SNPs, insertion/deletion:exons, intron, cds:multiple
DNA:splice-site mutation, nonsense mutation:intron, exon:IVS9-2A>G, c.2197C>T (p.R733X) (human)
DNA:insertions, deletions, missense mutations, nonsense mutation: :multiple
DNA:duplication:exons, introns:g.194832822_194840568dup (human)
DNA:mutations:multiple
DNA:splice-site mutation:intron:c.1065+5G>A (mouse)
ClinVar Annotator: match by OMIM:165500
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9490303 PMID:9917792 PMID:11017079 PMID:11017080 PMID:11440988 PMID:11440989 PMID:11735024 PMID:11810270 PMID:12036970 PMID:12488262 PMID:12842213 PMID:14961560 PMID:15505825 PMID:15948788 PMID:16513463 PMID:16617242 PMID:16785854 PMID:17188070 PMID:17722006 PMID:17724190 PMID:18222991 PMID:18496845 PMID:19029523 PMID:19319978 PMID:19581274 PMID:19900585 PMID:20157015 PMID:20417568 PMID:20659957 PMID:20801516 PMID:20952381 PMID:21203403 PMID:21538838 PMID:21636302 PMID:21646330 PMID:21745197 PMID:22042570 PMID:22779427 PMID:22857269 PMID:23250881 PMID:23384603 PMID:23401657 PMID:23409176 PMID:24907432 PMID:24970096 PMID:25012220 PMID:25326637 PMID:25564500 PMID:25641387 PMID:25699009 PMID:25741868 PMID:25794858 PMID:26206283 PMID:26385429 PMID:26467025 PMID:27656661 PMID:28492532 PMID:28494813 PMID:28812649 PMID:28926202 PMID:29389947 PMID:33546218, PMID:17428816, PMID:16617242, PMID:17306754, PMID:19112530, PMID:16513463, PMID:20546606, PMID:23401657, PMID:17314202 RGD:7800686, RGD:7800699, RGD:7800704, RGD:7800706, RGD:7800708, RGD:7800709, RGD:7800715, RGD:7800716 NCBI chr11:74,717,600...74,793,902
Ensembl chr11:74,720,254...74,793,803
JBrowse link
G Opa3 outer mitochondrial membrane lipid metabolism regulator OPA3 ISO ClinVar Annotator: match by term: Optic Atrophy, Dominant ClinVar NCBI chr 1:80,141,630...80,160,145
Ensembl chr 1:80,141,630...80,160,145
JBrowse link
G Wfs1 wolframin ER transmembrane glycoprotein ISO DNA:missense mutations, deletion:multiple RGD PMID:21538838 RGD:7800683 NCBI chr14:78,640,707...78,665,224
Ensembl chr14:78,640,620...78,665,966
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17126
    Nutritional and Metabolic Diseases 5513
      disease of metabolism 5513
        mitochondrial metabolism disease 388
          optic atrophy 1 3
Path 2
Term Annotations click to browse term
  disease 17126
    disease of anatomical entity 16474
      nervous system disease 12073
        peripheral nervous system disease 2516
          neuropathy 2316
            cranial nerve disease 439
              optic nerve disease 217
                optic atrophy 113
                  Hereditary Optic Atrophies 63
                    optic atrophy 1 3
paths to the root