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congenital stationary night blindness 1B - Ontology Report - Rat Genome Database

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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 1B
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Accession:DOID:0110865 term browser browse the term
Definition:A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in mutation in the GRM6 gene on chromosome 5q35. (DO)
Synonyms:exact_synonym: CSNB, COMPLETE, AUTOSOMAL RECESSIVE;   CSNB1B;   GRM6-RELATED CONDITION;   congenital stationary night blindness 1B autosomal recessive;   congenital stationary night blindness, complete, autosomal recessive;   congenital stationary night blindness, type 1B
 xref: MIM:257270;   MONDO:0009758

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congenital stationary night blindness 1B 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 1B ClinVar PMID:25741868 NCBI chr10:82,324,568...82,340,448
Ensembl chr10:82,337,771...82,340,448 		JBrowse link
G Grm6 glutamate metabotropic receptor 6 ISO
ISS		 OMIM:257270
ClinVar Annotator: match by term: Congenital stationary night blindness 1B | ClinVar Annotator: match by term: GRM6-related condition | ClinVar Annotator: match by term: NIGHT BLINDNESS, CONGENITAL STATIONARY, COMPLETE, AUTOSOMAL RECESSIVE		 OMIM
MouseDO
ClinVar		 PMID:11874764 PMID:15781871 PMID:16249515 PMID:16622103 PMID:17405131 More... NCBI chr10:35,167,985...35,182,717
Ensembl chr10:35,167,985...35,182,717 		JBrowse link
G Znf454 zinc finger protein 454 ISO ClinVar Annotator: match by term: Congenital stationary night blindness 1B | ClinVar Annotator: match by term: GRM6-related condition ClinVar PMID:11874764 PMID:15781871 PMID:16249515 PMID:16622103 PMID:17405131 More... NCBI chr10:35,183,729...35,200,450
Ensembl chr10:35,185,028...35,245,505 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19140
    physical disorder 5202
      congenital stationary night blindness 29
        congenital stationary night blindness 1B 3
Path 2
Term Annotations click to browse term
  disease 19140
    Pathological Conditions, Signs and Symptoms 13626
      Signs and Symptoms 11222
        Neurologic Manifestations 10464
          sensory system disease 7381
            eye disease 3728
              Vision Disorders 202
                night blindness 32
                  hereditary night blindness 29
                    congenital stationary night blindness 29
                      congenital stationary night blindness 1B 3
paths to the root