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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: Dominant hereditary optic atrophy
ClinVar Annotator: match by term: Optic Atrophy, Dominant
ClinVar Annotator: match by term: Optic Atrophy Type 1
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:12842213, PMID:14961560, PMID:15505825, PMID:15948788, PMID:16513463, PMID:16617242, PMID:16785854, PMID:17188070, PMID:17722006, 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:22042570, PMID:22857269, PMID:23250881, PMID:23384603, PMID:23401657, PMID:23409176, PMID:24907432, 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:28812649, PMID:28926202, PMID:30311386, 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 16108
    Nutritional and Metabolic Diseases 4720
      disease of metabolism 4720
        mitochondrial metabolism disease 333
          optic atrophy 1 3
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        peripheral nervous system disease 2472
          neuropathy 2293
            cranial nerve disease 472
              optic nerve disease 240
                optic atrophy 131
                  Hereditary Optic Atrophies 62
                    optic atrophy 1 3
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.