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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: 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 Dennd4a DENN domain containing 4A ISO ClinVar Annotator: match by term: CSNB, COMPLETE, AUTOSOMAL RECESSIVE ClinVar NCBI chr 8:70,293,355...70,406,675
Ensembl chr 8:70,317,586...70,406,751
JBrowse link
G Slc24a1 solute carrier family 24 member 1 ISO ClinVar Annotator: match by term: CSNB, COMPLETE, AUTOSOMAL RECESSIVE
ClinVar Annotator: match by OMIM:613830
ClinVar Annotator: match by term: Congenital stationary night blindness, type 1D
OMIM
ClinVar
PMID:12037007 PMID:20850105 PMID:25741868 PMID:26822852 PMID:28492532 NCBI chr 8:70,409,683...70,438,352
Ensembl chr 8:70,408,528...70,436,028
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    physical disorder 2462
      congenital stationary night blindness 25
        congenital stationary night blindness 1D 2
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        sensory system disease 5176
          eye disease 2591
            Vision Disorders 159
              night blindness 32
                hereditary night blindness 25
                  congenital stationary night blindness 25
                    congenital stationary night blindness 1D 2
paths to the root