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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 17289
    physical disorder 3103
      congenital stationary night blindness 25
        congenital stationary night blindness autosomal dominant 1 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        sensory system disease 5680
          eye disease 2766
            Vision Disorders 165
              night blindness 31
                hereditary night blindness 25
                  congenital stationary night blindness 25
                    congenital stationary night blindness autosomal dominant 1 1
paths to the root