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Term:achromatopsia 3
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Accession:DOID:0110008 term browser browse the term
Definition:An achromatopsia that has_material_basis_in homozygous or compound heterozygous mutation in the CNGB3 gene on chromosome 8q2. (DO)
Synonyms:exact_synonym: ACHM 3;   ACHM1;   ACHM3;   Achromatopsia (cone degeneration, hemeralopia);   Achromatopsia with myopia;   Pingelapese;   Pingelapese Blindness;   RMCH1;   ROD MONOCHROMACY 1;   ROD MONOCHROMATISM 1;   total colorblindness with myopia
 narrow_synonym: AMAL;   GSPT
 primary_id: MESH:C536129
 alt_id: OMIA:001365;   OMIA:001676;   OMIM:262300;   RDO:0001573
 xref: GARD:9650
For additional species annotation, visit the Alliance of Genome Resources.

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achromatopsia 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cngb3 cyclic nucleotide gated channel subunit beta 3 JBrowse link 5 33,097,353 33,507,467 RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7519
        genetic disease 7008
          monogenic disease 4561
            autosomal genetic disease 3515
              autosomal recessive disease 1981
                achromatopsia 3 1
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        sensory system disease 4674
          eye and adnexa disease 2242
            eye disease 2242
              Vision Disorders 145
                blindness 83
                  color blindness 10
                    achromatopsia 7
                      achromatopsia 3 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.