Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

ONTOLOGY REPORT - ANNOTATIONS


Term:optic atrophy 7
go back to main search page
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.


show annotations for term's descendants       view all columns           Sort by:
 
optic atrophy 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tmem126a transmembrane protein 126A JBrowse link 1 156,283,105 156,291,057 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15489
    disease of anatomical entity 14790
      nervous system disease 10147
        neurodegenerative disease 2937
          Nervous System Heredodegenerative Disorders 1727
            Hereditary Optic Atrophies 58
              optic atrophy 7 1
Path 2
Term Annotations click to browse term
  disease 15489
    disease of anatomical entity 14790
      nervous system disease 10147
        peripheral nervous system disease 2164
          neuropathy 1988
            cranial nerve disease 367
              optic nerve disease 194
                optic atrophy 95
                  Hereditary Optic Atrophies 58
                    optic atrophy 7 1
paths to the root

NHLBI Logo

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