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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 Incomplete, X-Linked
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Accession:DOID:9005276 term browser browse the term
Synonyms:primary_id: MESH:C538165
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 18215
    Developmental Disease 13067
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11805
        genetic disease 11316
          monogenic disease 8884
            X-linked monogenic disease 1201
              Achromatopsia Incomplete, X-Linked 0
Path 2
Term Annotations click to browse term
  disease 18215
    disease of anatomical entity 17576
      nervous system disease 13208
        Neurologic Manifestations 6217
          Sensation Disorders 1188
            Vision Disorders 266
              blindness 200
                color blindness 10
                  achromatopsia 7
                    Achromatopsia Incomplete, X-Linked 0
paths to the root