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

ONTOLOGY REPORT - ANNOTATIONS


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;   RDO:0013245
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
achromatopsia 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gnat2 G protein subunit alpha transducin 2 JBrowse link 2 210,880,754 210,890,765 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15609
    sensory system disease 4769
      eye disease 2338
        Hereditary Eye Diseases 528
          achromatopsia 4 1
Path 2
Term Annotations click to browse term
  disease 15609
    disease of anatomical entity 14966
      nervous system disease 10397
        Neurologic Manifestations 3780
          Sensation Disorders 948
            Vision Disorders 152
              blindness 88
                color blindness 10
                  achromatopsia 7
                    achromatopsia 4 1
paths to the root

NHLBI Logo

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