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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:9536098 PMID:17044014 PMID:17576681 More... NCBI chr14:1,323,310...1,366,450
Ensembl chr14:1,323,310...1,366,450
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17251
    physical disorder 3093
      congenital stationary night blindness 25
        congenital stationary night blindness autosomal dominant 2 1
Path 2
Term Annotations click to browse term
  disease 17251
    disease of anatomical entity 16595
      nervous system disease 12130
        sensory system disease 5658
          eye disease 2766
            Vision Disorders 165
              night blindness 31
                hereditary night blindness 25
                  congenital stationary night blindness 25
                    congenital stationary night blindness autosomal dominant 2 1
paths to the root