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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
 broad_synonym: TMEM126A-related condition
 xref: MESH:C567833;   MIM:612989;   MONDO:0013069


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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: TMEM126A-related condition
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:19327736 PMID:20405026 PMID:21270786 PMID:22815638 PMID:25741868 More... NCBI chr 1:153,837,015...153,843,192
Ensembl chr 1:153,835,236...153,843,160 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    sensory system disease 7348
      eye disease 3565
        Hereditary Eye Diseases 1149
          Hereditary Optic Atrophies 86
            optic atrophy 7 1
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        Neurologic Manifestations 10446
          sensory system disease 7348
            eye disease 3565
              optic nerve disease 507
                optic atrophy 325
                  Hereditary Optic Atrophies 86
                    optic atrophy 7 1
paths to the root