Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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.


show annotations for term's descendants           Sort by:
 

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16122
    sensory system disease 5248
      eye disease 2673
        blindness 93
          color blindness 10
            achromatopsia 7
              achromatopsia 2 1
Path 2
Term Annotations click to browse term
  disease 16122
    disease of anatomical entity 15369
      nervous system disease 10977
        sensory system disease 5248
          eye disease 2673
            Vision Disorders 158
              blindness 93
                color blindness 10
                  achromatopsia 7
                    achromatopsia 2 1
paths to the root