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

ONTOLOGY REPORT - ANNOTATIONS


Term:congenital stationary night blindness autosomal dominant 3
go back to main search page
Accession:DOID:0110715 term browser browse the term
Definition:A congenital stationary night blindness characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the GNAT1 gene on chromosome 3p21. (DO)
Synonyms:exact_synonym: CSNBAD3;   Nougaret type congenital stationary night blindness
 primary_id: MESH:C566475
 alt_id: OMIM:610444;   RDO:0014819
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
congenital stationary night blindness autosomal dominant 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gnat1 G protein subunit alpha transducin 1 JBrowse link 8 116,433,302 116,438,038 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7519
        genetic disease 7008
          monogenic disease 4561
            autosomal genetic disease 3515
              autosomal dominant disease 2079
                congenital stationary night blindness autosomal dominant 3 1
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        sensory system disease 4674
          eye and adnexa disease 2242
            eye disease 2242
              Vision Disorders 145
                night blindness 28
                  hereditary night blindness 23
                    congenital stationary night blindness 23
                      congenital stationary night blindness autosomal dominant 3 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.