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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 1E
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Accession:DOID:0110869 term browser browse the term
Definition:A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the GPR179 gene on chromosome 17q12. (DO)
Synonyms:exact_synonym: CSNB, COMPLETE, AUTOSOMAL RECESSIVE;   CSNB1E;   congenital stationary night blindness 1E autosomal recessive;   congenital stationary night blindness, type 1E
 primary_id: OMIM:614565
 alt_id: RDO:9000618
For additional species annotation, visit the Alliance of Genome Resources.


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congenital stationary night blindness 1E term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpr179 G protein-coupled receptor 179 ISO ClinVar Annotator: match by term: Congenital stationary night blindness 1E OMIM
ClinVar		 PMID:22325361 PMID:22325362 PMID:24033266 PMID:25741868 PMID:28041643 More... NCBI chr10:82,324,568...82,340,448
Ensembl chr10:82,337,771...82,340,448 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18162
    physical disorder 4194
      congenital stationary night blindness 25
        congenital stationary night blindness 1E 1
Path 2
Term Annotations click to browse term
  disease 18162
    disease of anatomical entity 17537
      nervous system disease 13196
        sensory system disease 6412
          eye disease 2937
            Vision Disorders 267
              night blindness 31
                hereditary night blindness 25
                  congenital stationary night blindness 25
                    congenital stationary night blindness 1E 1
paths to the root