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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;   RDO:0001572
 xref: GARD:9649;   NCI:C168757
For additional species annotation, visit the Alliance of Genome Resources.


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16918
    sensory system disease 5332
      eye disease 2643
        blindness 95
          color blindness 10
            achromatopsia 7
              achromatopsia 2 1
Path 2
Term Annotations click to browse term
  disease 16918
    disease of anatomical entity 16286
      nervous system disease 11864
        sensory system disease 5332
          eye disease 2643
            Vision Disorders 160
              blindness 95
                color blindness 10
                  achromatopsia 7
                    achromatopsia 2 1
paths to the root