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
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achromatopsia 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cngb3 cyclic nucleotide gated channel 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 14823
    Developmental Diseases 7637
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6675
        genetic disease 5920
          monogenic disease 2859
            autosomal genetic disease 2140
              autosomal recessive disease 1257
                achromatopsia 3 1
Path 2
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      nervous system disease 9111
        sensory system disease 4244
          eye and adnexa disease 1985
            eye disease 1985
              Vision Disorders 144
                blindness 83
                  color blindness 9
                    achromatopsia 6
                      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.