Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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.


show annotations for term's descendants           Sort by:
 

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    physical disorder 2526
      congenital stationary night blindness 29
        congenital stationary night blindness autosomal dominant 1 1
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        sensory system disease 5285
          eye disease 2714
            Vision Disorders 201
              night blindness 44
                hereditary night blindness 29
                  congenital stationary night blindness 29
                    congenital stationary night blindness autosomal dominant 1 1
paths to the root