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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 7
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Accession:DOID:0111437 term browser browse the term
Definition:An optic atrophy characterized by juvenile onset, severe bilateral deficiency in visual acuity, optic disc pallor, and central scotoma that has_material_basis_in homozygous or compound heterozygous mutation in TMEM126A on chromosome 11q14.1. (DO)
Synonyms:exact_synonym: OPA7;   optic atrophy 7 with or without auditory neuropathy
 primary_id: MESH:C567833
 alt_id: OMIM:612989
For additional species annotation, visit the Alliance of Genome Resources.


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optic atrophy 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem126a transmembrane protein 126A ISO ClinVar Annotator: match by term: OPTIC ATROPHY 7 WITH OR WITHOUT AUDITORY NEUROPATHY | ClinVar Annotator: match by term: Optic atrophy 7 OMIM
ClinVar		 PMID:19327736 PMID:20405026 PMID:22815638 PMID:25741868 PMID:28492532 More... NCBI chr 1:144,422,698...144,430,730
Ensembl chr 1:144,422,703...144,430,628 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18109
    sensory system disease 6555
      eye disease 3185
        Hereditary Eye Diseases 757
          Hereditary Optic Atrophies 71
            optic atrophy 7 1
Path 2
Term Annotations click to browse term
  disease 18109
    disease of anatomical entity 17480
      nervous system disease 13146
        peripheral nervous system disease 2989
          neuropathy 2780
            cranial nerve disease 528
              optic nerve disease 282
                optic atrophy 176
                  Hereditary Optic Atrophies 71
                    optic atrophy 7 1
paths to the root