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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.



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 IAGP ClinVar Annotator: match by term: Achromatopsia 4 ClinVar
OMIM
PMID:12077706 PMID:12205108 PMID:15557429 PMID:18643908 PMID:20301591 More... NCBI chr 1:109,603,091...109,619,616
Ensembl chr 1:109,603,091...109,619,929
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 22313
    sensory system disease 7233
      eye disease 3363
        Hereditary Eye Diseases 910
          achromatopsia 4 1
Path 2
Term Annotations click to browse term
  disease 22313
    disease of anatomical entity 20854
      nervous system disease 16645
        Neurologic Manifestations 7466
          Sensation Disorders 1449
            Vision Disorders 336
              blindness 267
                color blindness 13
                  achromatopsia 9
                    achromatopsia 4 1
paths to the root