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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 1D
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Accession:DOID:0110868 term browser browse the term
Definition:A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the SLC24A1 gene on chromosome 15q22. (DO)
Synonyms:exact_synonym: CONGENITAL STATIONARY NIGHT BLINDNESS, TYPE 1D;   CSNB, COMPLETE, AUTOSOMAL RECESSIVE;   CSNB1D;   congenital stationary night blindness 1D autosomal recessive
 primary_id: OMIM:613830
 alt_id: RDO:9000617
For additional species annotation, visit the Alliance of Genome Resources.


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congenital stationary night blindness 1D term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc24a1 solute carrier family 24 member 1 ISO ClinVar Annotator: match by term: Congenital stationary night blindness 1D OMIM
ClinVar		 PMID:9536098 PMID:12037007 PMID:16199547 PMID:17576681 PMID:20850105 More... NCBI chr 8:65,440,842...65,466,001
Ensembl chr 8:65,440,730...65,466,001 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    physical disorder 4194
      congenital stationary night blindness 25
        congenital stationary night blindness 1D 1
Path 2
Term Annotations click to browse term
  disease 18156
    disease of anatomical entity 17531
      nervous system disease 13193
        sensory system disease 6410
          eye disease 2936
            Vision Disorders 267
              night blindness 31
                hereditary night blindness 25
                  congenital stationary night blindness 25
                    congenital stationary night blindness 1D 1
paths to the root