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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 the OPA1 gene 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


show annotations for term's descendants           Sort by:
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 DNA:nonsense mutation:exon:p.Q285X (mouse)
ClinVar Annotator: match by term: Dominant hereditary optic atrophy | ClinVar Annotator: match by term: Kjer-type optic atrophy | ClinVar Annotator: match by term: Optic Atrophy Type 1 | ClinVar Annotator: match by term: Optic Atrophy, Dominant | ClinVar Annotator: match by term: Optic atrophy, juvenile
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)
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD
RGD		 PMID:4058877 PMID:6493699 PMID:9490303 PMID:9536098 PMID:9917792 More... RGD:7800686, RGD:7800699, RGD:7800704, RGD:7800706, RGD:7800708, RGD:7800709, RGD:7800715, RGD:7800716 NCBI chr11:71,108,100...71,185,170
Ensembl chr11:71,109,873...71,185,109 		JBrowse link
G Opa3 outer mitochondrial membrane lipid metabolism regulator OPA3 ISO ClinVar Annotator: match by term: Optic Atrophy, Dominant ClinVar 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 		JBrowse link
G Wfs1 wolframin ER transmembrane glycoprotein ISO DNA:missense mutations, deletion:multiple RGD PMID:21538838 RGD:7800683 NCBI chr14:73,810,478...73,834,993
Ensembl chr14:73,810,404...73,835,602 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    Nutritional and Metabolic Diseases 8246
      disease of metabolism 8246
        mitochondrial metabolism disease 812
          optic atrophy 1 3
Path 2
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18260
      nervous system disease 14116
        peripheral nervous system disease 4123
          neuropathy 3906
            cranial nerve disease 693
              optic nerve disease 373
                optic atrophy 191
                  Hereditary Optic Atrophies 82
                    optic atrophy 1 3
paths to the root