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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 4
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Accession:DOID:0110010 term browser browse the term
Definition:An achromatopsia that has_material_basis_in homozygous or compound heterozygous mutation in the GNAT2 gene on chromosome 1p13. (DO)
Synonyms:exact_synonym: ACHM4
 primary_id: MESH:C564206
 alt_id: OMIM:613856
For additional species annotation, visit the Alliance of Genome Resources.


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achromatopsia 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnat2 G protein subunit alpha transducin 2 ISO ClinVar Annotator: match by term: Achromatopsia 4 OMIM
ClinVar
PMID:12077706 PMID:12205108 PMID:15557429 PMID:18643908 PMID:20301591 More... NCBI chrNW_004955435:13,009,147...13,021,968
Ensembl chrNW_004955435:13,009,147...13,021,968
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13526
    sensory system disease 5645
      eye disease 2643
        Hereditary Eye Diseases 700
          achromatopsia 4 1
Path 2
Term Annotations click to browse term
  disease 13526
    disease of anatomical entity 13249
      nervous system disease 11298
        Neurologic Manifestations 5532
          Sensation Disorders 1028
            Vision Disorders 204
              blindness 143
                color blindness 9
                  achromatopsia 6
                    achromatopsia 4 1
paths to the root