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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:An unusual and unique stationary retinal disorder with a dual anomaly in visual processing, characterized by a partial or severe degree of ON bipolar dysfunction and variably reduced cone sensitivity. Patients present with childhood-onset night blindness and middle age-onset photophobia, but have near-normal vision and do not exhibit nystagmus or high myopia. (OMIM)
Synonyms:exact_synonym: CSNB1H;   congenital stationary night blindness type 1H
 primary_id: OMIM:617024
 alt_id: RDO:9001231
For additional species annotation, visit the Alliance of Genome Resources.


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congenital stationary night blindness 1H term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdca3 cell division cycle associated 3 ISO ClinVar Annotator: match by term: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1H ClinVar PMID:27063057 NCBI chr 4:157,347,876...157,351,889
Ensembl chr 4:157,348,020...157,351,604
JBrowse link
G Gnb3 G protein subunit beta 3 ISO ClinVar Annotator: match by OMIM:617024 ClinVar
OMIM
PMID:27063057 NCBI chr 4:157,352,558...157,359,237
Ensembl chr 4:157,352,372...157,358,262
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    sensory system disease 5231
      eye disease 2664
        Hereditary Eye Diseases 580
          hereditary night blindness 29
            congenital stationary night blindness 29
              congenital stationary night blindness 1H 2
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        sensory system disease 5231
          eye disease 2664
            Vision Disorders 203
              night blindness 45
                hereditary night blindness 29
                  congenital stationary night blindness 29
                    congenital stationary night blindness 1H 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.