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RGD uses the Human Disease Ontology (DO, 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;   RDO:0013245
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants           Sort by:
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 OMIM:613856
ClinVar Annotator: match by term: Achromatopsia 4
PMID:12077706, PMID:12205108, PMID:15557429, PMID:21107338, PMID:25741868, PMID:28492532 NCBI chr 2:210,880,754...210,890,765
Ensembl chr 2:210,880,777...210,889,881
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    sensory system disease 5162
      eye disease 2592
        Hereditary Eye Diseases 572
          achromatopsia 4 1
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      nervous system disease 10863
        Neurologic Manifestations 4137
          Sensation Disorders 1017
            Vision Disorders 198
              blindness 96
                color blindness 19
                  achromatopsia 9
                    achromatopsia 4 1
paths to the root


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.