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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 3
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Accession:DOID:0110715 term browser browse the term
Definition:A congenital stationary night blindness characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the GNAT1 gene on chromosome 3p21. (DO)
Synonyms:exact_synonym: CSNBAD3;   Nougaret type congenital stationary night blindness
 primary_id: MESH:C566475
 alt_id: OMIM:610444;   RDO:0014819
For additional species annotation, visit the Alliance of Genome Resources.


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congenital stationary night blindness autosomal dominant 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnat1 G protein subunit alpha transducin 1 ISO ClinVar Annotator: match by OMIM:610444
ClinVar Annotator: match by term: Congenital stationary night blindness, autosomal dominant 3
OMIM
ClinVar
PMID:8673138 PMID:17584859 PMID:25741868 PMID:26472407 PMID:28492532 NCBI chr 8:116,433,302...116,438,038
Ensembl chr 8:116,433,302...116,438,038
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17126
    physical disorder 3070
      congenital stationary night blindness 25
        congenital stationary night blindness autosomal dominant 3 1
Path 2
Term Annotations click to browse term
  disease 17126
    disease of anatomical entity 16474
      nervous system disease 12073
        sensory system disease 5580
          eye disease 2720
            Vision Disorders 162
              night blindness 31
                hereditary night blindness 25
                  congenital stationary night blindness 25
                    congenital stationary night blindness autosomal dominant 3 1
paths to the root