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 14920
    sensory system disease 4265
      eye and adnexa disease 1995
        eye disease 1995
          Hereditary Eye Diseases 505
            achromatopsia 4 1
Path 2
Term Annotations click to browse term
  disease 14920
    disease of anatomical entity 14086
      nervous system disease 9150
        sensory system disease 4265
          eye and adnexa disease 1995
            eye disease 1995
              Vision Disorders 145
                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.