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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 1C
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Accession:DOID:0110867 term browser browse the term
Definition:A congenital stationary night blindness characterized by autosomal recessive that has_material_basis_in homozygous or compound heterozygous mutation in the TRPM1 gene on chromosome 15q13-q14. (DO)
Synonyms:exact_synonym: CSNB, complete, autosomal recessive;   CSNB1C;   congenital stationary night blindness 1C autosomal recessive;   congenital stationary night blindness, type 1C
 primary_id: MESH:C567704
 alt_id: OMIM:613216;   RDO:0009789;   RDO:0015700
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
congenital stationary night blindness 1C 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: CSNB, COMPLETE, AUTOSOMAL RECESSIVE ClinVar PMID:30311386 NCBI chr10:85,273,839...85,289,886
Ensembl chr10:85,274,057...85,289,777
JBrowse link
G Mir211 microRNA 211 ISO ClinVar Annotator: match by term: Congenital stationary night blindness, type 1C ClinVar PMID:25741868 NCBI chr 1:125,042,119...125,042,224
Ensembl chr 1:125,042,119...125,042,224
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
G Trpm1 transient receptor potential cation channel, subfamily M, member 1 ISO ClinVar Annotator: match by term: Congenital stationary night blindness, type 1C
ClinVar Annotator: match by OMIM:613216
OMIM
ClinVar
PMID:19436059 PMID:19878917 PMID:19896109 PMID:19896113 PMID:19966281 PMID:20300565 PMID:22277662 PMID:25307992 PMID:25741868 PMID:25999674 PMID:26493165 PMID:26872967 PMID:28492532 PMID:30718709 NCBI chr 1:124,983,391...125,101,759
Ensembl chr 1:124,983,452...125,099,573
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 1C 5
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 1C 5
paths to the root