Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  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 4
go back to main search page
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



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
EXP
ISS
ClinVar Annotator: match by term: Achromatopsia 4
CTD Direct Evidence: marker/mechanism
OMIM:613856
ClinVar
OMIM
CTD
MouseDO
PMID:12077706 PMID:12205108 PMID:15557429 PMID:18643908 PMID:21107338 More... NCBI chr 1:109,603,091...109,619,616
Ensembl chr 1:109,603,091...109,619,929
JBrowse link
G LOC129388577 MPRA-validated peak357 silencer IAGP ClinVar Annotator: match by term: Achromatopsia 4 ClinVar PMID:25741868 PMID:28492532 PMID:31058429 NCBI chr 1:109,605,893...109,606,093 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 40721
    sensory system disease 9668
      eye disease 4877
        Hereditary Eye Diseases 1605
          achromatopsia 4 2
Path 2
Term Annotations click to browse term
  disease 40721
    Pathological Conditions, Signs and Symptoms 20960
      Signs and Symptoms 16039
        Neurologic Manifestations 15108
          sensory system disease 9668
            eye disease 4877
              Vision Disorders 361
                blindness 281
                  color blindness 17
                    achromatopsia 12
                      achromatopsia 4 2
paths to the root