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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 15620
    Developmental Diseases 8739
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7521
        genetic disease 7009
          monogenic disease 4562
            autosomal genetic disease 3515
              autosomal recessive disease 1981
                achromatopsia 7 1
Path 2
Term Annotations click to browse term
  disease 15620
    disease of anatomical entity 14949
      nervous system disease 10219
        sensory system disease 4681
          eye and adnexa disease 2253
            eye disease 2253
              Vision Disorders 145
                blindness 83
                  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.