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congenital stationary night blindness 1H - 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 1H
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Accession:DOID:0110866 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 GNB3 gene on chromosome 12p13. (DO)
Synonyms:exact_synonym: CSNB1H;   congenital stationary night blindness type 1H
 broad_synonym: GNB3-RELATED CONDITION
 primary_id: MIM:617024

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congenital stationary night blindness 1H term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Cdca3 cell division cycle associated 3 ISO ClinVar Annotator: match by term: Congenital stationary night blindness 1H ClinVar PMID:9425898 PMID:10477144 PMID:10523525 PMID:10770297 PMID:10770309 More... NCBI chrNW_004624860:3,516,244...3,519,107
Ensembl chrNW_004624860:3,515,411...3,518,828 		JBrowse link
G G CDCA3 cell division cycle associated 3 ISO ClinVar Annotator: match by term: Congenital stationary night blindness 1H ClinVar PMID:9425898 PMID:10477144 PMID:10523525 PMID:10770297 PMID:10770309 More... NCBI chr11:6,882,125...6,885,311
Ensembl chr11:6,881,504...6,885,118 		JBrowse link
G P CDCA3 cell division cycle associated 3 ISO ClinVar Annotator: match by term: Congenital stationary night blindness 1H ClinVar PMID:9425898 PMID:10477144 PMID:10523525 PMID:10770297 PMID:10770309 More... NCBI chr 5:63,858,905...63,861,902
Ensembl chr 5:63,859,541...63,864,269 		JBrowse link
G S Cdca3 cell division cycle associated 3 ISO ClinVar Annotator: match by term: Congenital stationary night blindness 1H ClinVar PMID:9425898 PMID:10477144 PMID:10523525 PMID:10770297 PMID:10770309 More... NCBI chrNW_004936709:966,559...969,667
Ensembl chrNW_004936709:967,294...968,896 		JBrowse link
G D CDCA3 cell division cycle associated 3 ISO ClinVar Annotator: match by term: Congenital stationary night blindness 1H ClinVar PMID:9425898 PMID:10477144 PMID:10523525 PMID:10770297 PMID:10770309 More... NCBI chr27:38,172,717...38,174,963
Ensembl chr27:38,172,988...38,176,548 		JBrowse link
G B CDCA3 cell division cycle associated 3 ISO ClinVar Annotator: match by term: Congenital stationary night blindness 1H ClinVar PMID:9425898 PMID:10477144 PMID:10523525 PMID:10770297 PMID:10770309 More... NCBI chr12:6,980,656...6,983,796
Ensembl chr12:6,890,095...6,895,364 		JBrowse link
G C Cdca3 cell division cycle associated 3 ISO ClinVar Annotator: match by term: Congenital stationary night blindness 1H ClinVar PMID:9425898 PMID:10477144 PMID:10523525 PMID:10770297 PMID:10770309 More... NCBI chrNW_004955413:4,448,711...4,450,917
Ensembl chrNW_004955413:4,448,917...4,450,553 		JBrowse link
G R Cdca3 cell division cycle associated 3 ISO ClinVar Annotator: match by term: Congenital stationary night blindness 1H ClinVar PMID:9425898 PMID:10477144 PMID:10523525 PMID:10770297 PMID:10770309 More... NCBI chr 4:159,321,203...159,325,072
Ensembl chr 4:157,634,928...157,638,799 		JBrowse link
G M Cdca3 cell division cycle associated 3 ISO ClinVar Annotator: match by term: Congenital stationary night blindness 1H ClinVar PMID:9425898 PMID:10477144 PMID:10523525 PMID:10770297 PMID:10770309 More... NCBI chr 6:124,806,533...124,810,664
Ensembl chr 6:124,806,510...124,810,664 		JBrowse link
G H CDCA3 cell division cycle associated 3 IAGP ClinVar Annotator: match by term: Congenital stationary night blindness 1H ClinVar PMID:9425898 PMID:10477144 PMID:10523525 PMID:10770297 PMID:10770309 More... NCBI chr12:6,844,798...6,851,286
Ensembl chr12:6,844,793...6,851,292 		JBrowse link
G N Gnb3 G protein subunit beta 3 susceptibility ISO ClinVar Annotator: match by term: Congenital stationary night blindness 1H ClinVar
OMIM		 PMID:9425898 PMID:10477144 PMID:10523525 PMID:10770297 PMID:10770309 More... NCBI chrNW_004624860:3,509,185...3,515,025
Ensembl chrNW_004624860:3,509,397...3,515,352 		JBrowse link
G G GNB3 G protein subunit beta 3 susceptibility ISO ClinVar Annotator: match by term: Congenital stationary night blindness 1H ClinVar
OMIM		 PMID:9425898 PMID:10477144 PMID:10523525 PMID:10770297 PMID:10770309 More... NCBI chr11:6,873,043...6,880,676
Ensembl chr11:6,874,351...6,880,179 		JBrowse link
G P GNB3 G protein subunit beta 3 susceptibility ISO ClinVar Annotator: match by term: Congenital stationary night blindness 1H ClinVar
OMIM		 PMID:9425898 PMID:10477144 PMID:10523525 PMID:10770297 PMID:10770309 More... NCBI chr 5:63,863,656...63,871,352
Ensembl chr 5:63,863,661...63,870,433 		JBrowse link
G S Gnb3 G protein subunit beta 3 susceptibility ISO ClinVar Annotator: match by term: Congenital stationary night blindness 1H ClinVar
OMIM		 PMID:9425898 PMID:10477144 PMID:10523525 PMID:10770297 PMID:10770309 More... NCBI chrNW_004936709:970,169...977,059
Ensembl chrNW_004936709:970,172...976,863 		JBrowse link
G D GNB3 G protein subunit beta 3 susceptibility ISO ClinVar Annotator: match by term: Congenital stationary night blindness 1H ClinVar
OMIM		 PMID:9425898 PMID:10477144 PMID:10523525 PMID:10770297 PMID:10770309 More... NCBI chr27:38,175,928...38,182,473
Ensembl chr27:38,175,931...38,181,763 		JBrowse link
G B GNB3 G protein subunit beta 3 susceptibility ISO ClinVar Annotator: match by term: Congenital stationary night blindness 1H ClinVar
OMIM		 PMID:9425898 PMID:10477144 PMID:10523525 PMID:10770297 PMID:10770309 More... NCBI chr12:6,971,854...6,979,214
Ensembl chr12:6,883,280...6,890,692 		JBrowse link
G C Gnb3 G protein subunit beta 3 susceptibility ISO ClinVar Annotator: match by term: Congenital stationary night blindness 1H ClinVar
OMIM		 PMID:9425898 PMID:10477144 PMID:10523525 PMID:10770297 PMID:10770309 More... NCBI chrNW_004955413:4,440,693...4,447,419
Ensembl chrNW_004955413:4,440,693...4,447,416 		JBrowse link
G R Gnb3 G protein subunit beta 3 susceptibility ISO ClinVar Annotator: match by term: Congenital stationary night blindness 1H ClinVar
OMIM		 PMID:9425898 PMID:10477144 PMID:10523525 PMID:10770297 PMID:10770309 More... NCBI chr 4:159,325,741...159,331,443
Ensembl chr 4:157,639,469...157,645,173 		JBrowse link
G M Gnb3 guanine nucleotide binding protein (G protein), beta 3 susceptibility ISO ClinVar Annotator: match by term: Congenital stationary night blindness 1H ClinVar
OMIM		 PMID:9425898 PMID:10477144 PMID:10523525 PMID:10770297 PMID:10770309 More... NCBI chr 6:124,811,203...124,817,238
Ensembl chr 6:124,811,203...124,817,238 		JBrowse link
G H GNB3 G protein subunit beta 3 susceptibility IAGP ClinVar Annotator: match by term: Congenital stationary night blindness 1H ClinVar
OMIM		 PMID:9425898 PMID:10477144 PMID:10523525 PMID:10770297 PMID:10770309 More... NCBI chr12:6,840,925...6,847,393
Ensembl chr12:6,839,954...6,847,393 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 288179
    physical disorder 54044
      congenital stationary night blindness 266
        congenital stationary night blindness 1H 20
Path 2
Term Annotations click to browse term
  disease 288179
    Pathological Conditions, Signs and Symptoms 178736
      Signs and Symptoms 137100
        Neurologic Manifestations 126178
          sensory system disease 89068
            eye disease 42489
              Vision Disorders 2149
                night blindness 296
                  hereditary night blindness 266
                    congenital stationary night blindness 266
                      congenital stationary night blindness 1H 20
paths to the root