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
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achromatopsia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cnga3 cyclic nucleotide gated channel 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 14875
    Developmental Diseases 7711
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6750
        genetic disease 5997
          monogenic disease 2855
            autosomal genetic disease 2137
              autosomal recessive disease 1249
                achromatopsia 2 1
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        sensory system disease 4246
          eye and adnexa disease 1985
            eye disease 1985
              Vision Disorders 144
                blindness 83
                  color blindness 9
                    achromatopsia 6
                      achromatopsia 2 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.