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ONTOLOGY REPORT - ANNOTATIONS


Term:achromatopsia 7
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Accession:DOID:0110009 term browser browse the term
Definition:An autosomal recessive disorder resulting from lack of cone photoreceptor function. Affected individuals present from birth or early infancy with photophobia, nystagmus, severely reduced visual acuity, and color blindness. (OMIM)
Synonyms:exact_synonym: ACHM7
 primary_id: OMIM:616517
 alt_id: RDO:9001328
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achromatopsia 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atf6 activating transcription factor 6 JBrowse link 13 89,053,457 89,242,531 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15984
    sensory system disease 4970
      eye disease 2388
        blindness 85
          color blindness 10
            achromatopsia 7
              achromatopsia 7 1
Path 2
Term Annotations click to browse term
  disease 15984
    disease of anatomical entity 15262
      nervous system disease 10752
        sensory system disease 4970
          eye disease 2388
            Vision Disorders 149
              blindness 85
                color blindness 10
                  achromatopsia 7
                    achromatopsia 7 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.