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ONTOLOGY REPORT - ANNOTATIONS


Term:achromatopsia 2
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Accession:DOID:0110007 term browser browse the term
Definition:An achromatopsia that has_material_basis_in homozygous or compound heterozygous mutation in the CNGA3 gene on chromosome 2q11. (DO)
Synonyms:exact_synonym: ACHM2;   RMCH2;   Rod monochromacy 2;   Rod monochromatism 2;   total color blindness;   total colorblindness
 primary_id: MESH:C536128
 alt_id: OMIA:001481;   OMIM:216900;   RDO:0001572
 xref: GARD:9649
For additional species annotation, visit the Alliance of Genome Resources.


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achromatopsia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cnga3 cyclic nucleotide gated channel subunit alpha 3 JBrowse link 9 43,807,412 43,858,225 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15992
    sensory system disease 4969
      eye disease 2385
        blindness 85
          color blindness 10
            achromatopsia 7
              achromatopsia 2 1
Path 2
Term Annotations click to browse term
  disease 15992
    disease of anatomical entity 15263
      nervous system disease 10756
        sensory system disease 4969
          eye disease 2385
            Vision Disorders 149
              blindness 85
                color blindness 10
                  achromatopsia 7
                    achromatopsia 2 1
paths to the root

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