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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 1A
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Accession:DOID:0110870 term browser browse the term
Definition:A congenital stationary night blindness that has_material_basis_in mutation in the NYX gene on chromosome Xp11.4. (DO)
Synonyms:exact_synonym: CSNB, complete, X-linked;   CSNB1A;   NBMI;   congenital stationary night blindness 1A, X-linked;   congenital stationary night blindness, type 1A;   congenital stationary night blindness, with myopia
 narrow_synonym: NBM1 nyctalopia;   myopia-night blindness
 primary_id: OMIM:310500
 alt_id: RDO:0008703
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
congenital stationary night blindness 1A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nyx nyctalopin ISO ClinVar Annotator: match by OMIM:310500
ClinVar Annotator: match by term: Congenital stationary night blindness, type 1A
OMIM
ClinVar
PMID:11062471 PMID:11062472 PMID:16670814 PMID:17392683 PMID:23406521 More... NCBI chr  X:9,280,864...9,301,900
Ensembl chr  X:9,280,864...9,301,900
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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 1A 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 1A 1
paths to the root