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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 the TMEM126A gene 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



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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
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:19327736 PMID:20405026 PMID:22815638 PMID:25741868 PMID:28492532 More... NCBI chr 1:144,424,481...144,430,730
Ensembl chr 1:144,422,703...144,430,628
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21142
    sensory system disease 6892
      eye disease 3450
        Hereditary Eye Diseases 1085
          Hereditary Optic Atrophies 79
            optic atrophy 7 1
Path 2
Term Annotations click to browse term
  disease 21142
    disease of anatomical entity 18190
      nervous system disease 14019
        Neurologic Manifestations 9994
          sensory system disease 6892
            eye disease 3450
              optic nerve disease 366
                optic atrophy 185
                  Hereditary Optic Atrophies 79
                    optic atrophy 7 1
paths to the root