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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:congenital stationary night blindness 1G
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Accession:DOID:0110714 term browser browse the term
Definition:A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the GNAT1 gene on chromosome 3p21. (DO)
Synonyms:exact_synonym: CSNB1G;   congenital stationary night blindness type 1G
 primary_id: OMIM:616389
 alt_id: RDO:9001516


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congenital stationary night blindness 1G term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GNAT1 G protein subunit alpha transducin 1 ISO ClinVar Annotator: match by term: Congenital stationary night blindness 1G OMIM
ClinVar		 PMID:11095744 PMID:22190596 PMID:25741868 PMID:26472407 PMID:27624628 More... NCBI chr 3:50,119,267...50,126,131
Ensembl chr 3:51,354,472...51,360,568 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    physical disorder 4917
      congenital stationary night blindness 25
        congenital stationary night blindness 1G 1
Path 2
Term Annotations click to browse term
  disease 17996
    Pathological Conditions, Signs and Symptoms 12035
      Signs and Symptoms 9967
        Neurologic Manifestations 9644
          sensory system disease 6624
            eye disease 3375
              Vision Disorders 186
                night blindness 28
                  hereditary night blindness 25
                    congenital stationary night blindness 25
                      congenital stationary night blindness 1G 1
paths to the root