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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
For additional species annotation, visit the Alliance of Genome Resources.



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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:22190596 PMID:25741868 PMID:26472407 PMID:28492532 NCBI chr 8:108,350,935...108,355,671
Ensembl chr 8:108,350,935...108,355,671
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18109
    physical disorder 4115
      congenital stationary night blindness 25
        congenital stationary night blindness 1G 1
Path 2
Term Annotations click to browse term
  disease 18109
    disease of anatomical entity 17480
      nervous system disease 13146
        sensory system disease 6555
          eye disease 3185
            Vision Disorders 265
              night blindness 31
                hereditary night blindness 25
                  congenital stationary night blindness 25
                    congenital stationary night blindness 1G 1
paths to the root