ONTOLOGY REPORT - ANNOTATIONS


Term:achromatopsia 4
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Accession:DOID:0110010 term browser browse the term
Definition:An achromatopsia that has material basis in homozygous or compound heterozygous mutation in the GNAT2 gene on chromosome 1p13. (DO)
Synonyms:exact_synonym: ACHM4
 primary_id: MESH:C564206
 alt_id: OMIM:613856;   RDO:0013245
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achromatopsia 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gnat2 G protein subunit alpha transducin 2 JBrowse link 2 210,880,754 210,890,765 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 14823
    sensory system disease 4244
      eye and adnexa disease 1985
        eye disease 1985
          Hereditary Eye Diseases 496
            achromatopsia 4 1
Path 2
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      nervous system disease 9111
        sensory system disease 4244
          eye and adnexa disease 1985
            eye disease 1985
              Vision Disorders 144
                blindness 83
                  color blindness 9
                    achromatopsia 6
                      achromatopsia 4 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.