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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: DOID:9002666;   OMIM:612989;   RDO:0015754
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 OMIM:612989
ClinVar Annotator: match by term: Optic atrophy 7
OMIM
ClinVar
PMID:19327736, PMID:20405026, PMID:22815638, PMID:25741868, PMID:28492532 NCBI chr 1:156,283,105...156,291,057
Ensembl chr 1:156,283,128...156,291,052
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    sensory system disease 5162
      eye disease 2593
        Hereditary Eye Diseases 572
          Hereditary Optic Atrophies 62
            optic atrophy 7 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        peripheral nervous system disease 2472
          neuropathy 2293
            cranial nerve disease 472
              optic nerve disease 240
                optic atrophy 131
                  Hereditary Optic Atrophies 62
                    optic atrophy 7 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.