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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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
 xref: GARD:9649;   NCI:C168757


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    sensory system disease 6939
      Vision Disorders 193
        blindness 118
          color blindness 12
            achromatopsia 8
              achromatopsia 2 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      nervous system disease 14060
        Neurologic Manifestations 10040
          sensory system disease 6939
            eye disease 3475
              Vision Disorders 193
                blindness 118
                  color blindness 12
                    achromatopsia 8
                      achromatopsia 2 1
paths to the root