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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 1
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Accession:DOID:0110862 term browser browse the term
Definition:A congenital stationary night blindness characterized by autosomal dominant inheritance that has_material_basis_in mutations in the RHO gene on chromosome 3q22.1. (DO)
Synonyms:exact_synonym: CSNBAD1;   rhodopsin-related congenital stationary night blindness
 primary_id: MESH:C566474
 alt_id: OMIM:610445;   RDO:0014818
For additional species annotation, visit the Alliance of Genome Resources.


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    sensory system disease 5213
      eye disease 2652
        Hereditary Eye Diseases 576
          hereditary night blindness 29
            congenital stationary night blindness 29
              congenital stationary night blindness autosomal dominant 1 1
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        sensory system disease 5213
          eye disease 2652
            Vision Disorders 199
              night blindness 45
                hereditary night blindness 29
                  congenital stationary night blindness 29
                    congenital stationary night blindness autosomal dominant 1 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.