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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 autosomal dominant 2
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Accession:DOID:0110863 term browser browse the term
Definition:A congenital stationary night blindness characterized by autosomal dominant inhertance that has_material_basis_in heterozygous mutation in the PDE6B gene on chromosome 4p16. (DO)
Synonyms:exact_synonym: CSNBAD2;   congenital stationary night blindness, Rambusch type
 broad_synonym: PDE6B-RELATED DISORDER
 primary_id: MESH:C566869
 alt_id: OMIM:163500;   RDO:0015086
For additional species annotation, visit the Alliance of Genome Resources.


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congenital stationary night blindness autosomal dominant 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pde6b phosphodiesterase 6B ISO ClinVar Annotator: match by OMIM:163500
ClinVar Annotator: match by term: Congenital stationary night blindness, autosomal dominant 2
OMIM
ClinVar
PMID:7724547, PMID:8075643, PMID:17044014, PMID:22334370, PMID:24033266, PMID:24938718, PMID:25472526, PMID:25741868, PMID:25999674, PMID:26667666, PMID:27588261, PMID:28041643, PMID:28492532, PMID:28912962, PMID:28981474, PMID:30029497, PMID:30311386, PMID:30718709 NCBI chr14:2,328,690...2,371,913
Ensembl chr14:2,328,750...2,371,883
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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 autosomal dominant 2 1
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 autosomal dominant 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.