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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;   TRPM1-RELATED CONDITION;   congenital stationary night blindness 1C autosomal recessive;   congenital stationary night blindness, type 1C
 primary_id: MESH:C567704
 alt_id: MIM:613216;   RDO:0009789;   RDO:0015700


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congenital stationary night blindness 1C term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnat1 G protein subunit alpha transducin 1 ISO ClinVar Annotator: match by term: Congenital stationary night blindness 1C ClinVar PMID:25741868 NCBI chr 8:108,350,935...108,355,671
Ensembl chr 8:117,229,575...117,234,311 		JBrowse link
G Grm6 glutamate metabotropic receptor 6 ISO ClinVar Annotator: match by term: Congenital stationary night blindness 1C ClinVar PMID:25741868 NCBI chr10:35,669,003...35,683,729
Ensembl chr10:35,669,003...35,683,729 		JBrowse link
G Mir211 microRNA 211 ISO ClinVar Annotator: match by term: Congenital stationary night blindness 1C ClinVar PMID:25741868 NCBI chr 1:117,777,539...117,777,644
Ensembl chr 1:127,189,328...127,189,433 		JBrowse link
G Nyx nyctalopin ISO ClinVar Annotator: match by term: Congenital stationary night blindness 1C ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:9,280,864...9,301,900
Ensembl chr  X:11,953,018...11,974,810 		JBrowse link
G Trpm1 transient receptor potential cation channel, subfamily M, member 1 ISO
ISS 		OMIM:613216
ClinVar Annotator: match by term: Congenital stationary night blindness 1C | ClinVar Annotator: match by term: TRPM1-related condition 		OMIM
MouseDO
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19436059 PMID:19878917 More... NCBI chr 1:117,718,896...117,835,434
Ensembl chr 1:127,130,686...127,247,391 		JBrowse link
G Znf454 zinc finger protein 454 ISO ClinVar Annotator: match by term: Congenital stationary night blindness 1C ClinVar PMID:25741868 NCBI chr10:35,183,729...35,200,450
Ensembl chr10:35,685,841...35,697,415 		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 1C 6
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 1C 6
paths to the root