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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 1E
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Accession:DOID:0110869 term browser browse the term
Definition:A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the GPR179 gene on chromosome 17q12. (DO)
Synonyms:exact_synonym: CSNB, COMPLETE, AUTOSOMAL RECESSIVE;   CSNB1E;   congenital stationary night blindness 1E autosomal recessive;   congenital stationary night blindness, type 1E
 primary_id: OMIM:614565
 alt_id: RDO:9000618
For additional species annotation, visit the Alliance of Genome Resources.

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congenital stationary night blindness 1E 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 Gpr179 G protein-coupled receptor 179 ISO ClinVar Annotator: match by term: Congenital stationary night blindness, type 1E
ClinVar Annotator: match by OMIM:614565		 OMIM
ClinVar		 PMID:22325361 PMID:22325362 PMID:24033266 PMID:25741868 PMID:28041643 PMID:30311386 PMID:30718709 NCBI chr10:85,273,839...85,289,886
Ensembl chr10:85,274,057...85,289,777 		JBrowse link
G Slc24a1 solute carrier family 24 member 1 ISO ClinVar Annotator: match by term: CSNB, COMPLETE, AUTOSOMAL RECESSIVE 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 16085
    physical disorder 2526
      congenital stationary night blindness 29
        congenital stationary night blindness 1E 3
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        sensory system disease 5285
          eye disease 2714
            Vision Disorders 201
              night blindness 44
                hereditary night blindness 29
                  congenital stationary night blindness 29
                    congenital stationary night blindness 1E 3
paths to the root