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ONTOLOGY REPORT - ANNOTATIONS


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
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16017
    sensory system disease 4971
      eye disease 2387
        blindness 86
          color blindness 10
            achromatopsia 7
              achromatopsia 3 1
Path 2
Term Annotations click to browse term
  disease 16017
    disease of anatomical entity 15273
      nervous system disease 10762
        sensory system disease 4971
          eye disease 2387
            Vision Disorders 150
              blindness 86
                color blindness 10
                  achromatopsia 7
                    achromatopsia 3 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.