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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 2A
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Accession:DOID:0110871 term browser browse the term
Definition:A congenital stationary night blindness that has_material_basis_in mutation in the CACNA1F gene on chromosome Xp11.23. (DO)
Synonyms:exact_synonym: CSNB, incomplete, X-linked;   CSNB2;   CSNB2A;   congenital stationary night blindness 2A, X-linked;   congenital stationary night blindness type 2A;   congenital stationary night blindness, type 2
 narrow_synonym: congenital stationary night blindness type 2A, severe
 primary_id: OMIM:300071
 alt_id: RDO:0008547
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
congenital stationary night blindness 2A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1f calcium voltage-gated channel subunit alpha1 F ISO ClinVar Annotator: match by OMIM:300071
ClinVar Annotator: match by term: Congenital stationary night blindness, type 2A, severe
OMIM
ClinVar
PMID:9529339 PMID:9662399 PMID:9662400 PMID:10900517 PMID:11281458 More... NCBI chr  X:14,868,096...14,896,413
Ensembl chr  X:14,868,024...14,896,413
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    physical disorder 3086
      congenital stationary night blindness 25
        congenital stationary night blindness 2A 1
Path 2
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      nervous system disease 12097
        sensory system disease 5611
          eye disease 2733
            Vision Disorders 165
              night blindness 31
                hereditary night blindness 25
                  congenital stationary night blindness 25
                    congenital stationary night blindness 2A 1
paths to the root