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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 12
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Accession:DOID:0080840 term browser browse the term
Definition:An optic atrophy that is characterized by slowly progressive visual impairment with onset usually in the first decade and that has_material_basis_in heterozygous mutation in the AFG3L2 gene on chromosome 18p11. (DO)
Synonyms:exact_synonym: OPA12
 primary_id: MIM:618977


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optic atrophy 12 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AFG3L2 AFG3 like matrix AAA peptidase subunit 2 ISO ClinVar Annotator: match by term: Optic atrophy 12 OMIM
ClinVar		 PMID:25741868 PMID:26467025 PMID:26539208 PMID:26633542 PMID:28492532 More... NCBI chr18:1,951,279...1,999,313
Ensembl chr18:17,062,250...17,109,400 		JBrowse link
G TUBB6 tubulin beta 6 class V ISO ClinVar Annotator: match by term: Optic atrophy 12 ClinVar PMID:25741868 NCBI chr18:1,998,428...2,020,202 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15687
    sensory system disease 6718
      eye disease 3397
        Hereditary Eye Diseases 1088
          Hereditary Optic Atrophies 70
            optic atrophy 12 2
Path 2
Term Annotations click to browse term
  disease 15687
    disease of anatomical entity 15313
      nervous system disease 13351
        Neurologic Manifestations 9715
          sensory system disease 6718
            eye disease 3397
              optic nerve disease 356
                optic atrophy 179
                  Hereditary Optic Atrophies 70
                    optic atrophy 12 2
paths to the root