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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 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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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    sensory system disease 6469
      eye disease 3172
        blindness 199
          color blindness 10
            achromatopsia 7
              achromatopsia 3 1
Path 2
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      nervous system disease 13079
        sensory system disease 6469
          eye disease 3172
            Vision Disorders 264
              blindness 199
                color blindness 10
                  achromatopsia 7
                    achromatopsia 3 1
paths to the root