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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 a Riggs type of electroretinogram (proportionally reduced a- and b-waves) that has_material_basis_in homozygous or compound heterozygous mutation in the SLC24A1 gene on chromosome 15q22. (DO)
Synonyms:exact_synonym: CONGENITAL STATIONARY NIGHT BLINDNESS, TYPE 1D;   CSNB1D;   congenital stationary night blindness 1D autosomal recessive
 broad_synonym: CSNB, complete, autosomal recessive;   SLC24A1-related condition
 xref: MIM:613830;   MONDO:0013450


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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
ISS 		OMIM:613830
ClinVar Annotator: match by term: Congenital stationary night blindness 1D | ClinVar Annotator: match by term: SLC24A1-related condition 		OMIM
MouseDO
ClinVar		 PMID:9536098 PMID:12037007 PMID:16199547 PMID:17576681 PMID:20850105 More... NCBI chr 8:74,334,556...74,361,313
Ensembl chr 8:74,335,053...74,361,268 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    physical disorder 5216
      congenital stationary night blindness 30
        congenital stationary night blindness 1D 1
Path 2
Term Annotations click to browse term
  disease 19167
    Pathological Conditions, Signs and Symptoms 13667
      Signs and Symptoms 11198
        Neurologic Manifestations 10446
          sensory system disease 7348
            eye disease 3565
              Vision Disorders 202
                night blindness 33
                  hereditary night blindness 30
                    congenital stationary night blindness 30
                      congenital stationary night blindness 1D 1
paths to the root