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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:Oguchi disease-2
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Accession:DOID:0110713 term browser browse the term
Definition:A congenital stationary night blindness characterized by congenital static night blindness, a golden or gray-white discoloration of the fundus that disappears in the dark-adapted state and typically normal function of all other visual functions that has_material_basis_in homozygous mutation in the GRK1 gene on chromosome 13q34. (DO)
Synonyms:exact_synonym: CSNBO2;   congenital stationary night blindness Oguchi type 2
 primary_id: OMIM:613411
 alt_id: RDO:9003139
For additional species annotation, visit the Alliance of Genome Resources.


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Oguchi disease-2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grk1 G protein-coupled receptor kinase 1 ISO ClinVar Annotator: match by term: Oguchi disease 2 ClinVar
OMIM
PMID:9020843, PMID:9419375, PMID:16319817, PMID:17070587, PMID:17765441, PMID:19753316, PMID:22959359, PMID:26349155, PMID:27511724, PMID:28418496, PMID:28511019, PMID:30718709 NCBI chr16:81,153,489...81,165,442
Ensembl chr16:81,153,489...81,165,442
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    sensory system disease 5162
      eye disease 2592
        Hereditary Eye Diseases 572
          hereditary night blindness 29
            congenital stationary night blindness 29
              Oguchi disease-2 1
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      nervous system disease 10863
        sensory system disease 5162
          eye disease 2592
            Vision Disorders 198
              night blindness 45
                hereditary night blindness 29
                  congenital stationary night blindness 29
                    Oguchi disease-2 1
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.