{"orpha":714096,"name":"Congenital stationary night blindness, Riggs type","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CSNB Riggs type"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-714096/","orphanet_url":"https://www.orpha.net/en/disease/detail/714096","names":{"fr":{"name":"Cécité nocturne stationnaire congénitale type Riggs","synonyms":["CNSC type Riggs"]},"de":{"name":"Kongenitale stationäre Nachtblindheit Typ Riggs","synonyms":["CSNB Typ Riggs"]},"es":{"name":"Ceguera nocturna estacionaria congénita, tipo Riggs","synonyms":["CSNB tipo Riggs"]},"it":{"name":"Cecità notturna stazionaria congenita, tipo Riggs","synonyms":["CSNB tipo Riggs"]},"nl":{"name":"Congenitale stationaire nachtblindheid, Riggs-type","synonyms":["CNSCB Riggs-type"]},"pt":{"name":"Congenital stationary night blindness, Riggs type"},"pl":{"name":"Wrodzona stacjonarna ślepota nocna, typu Riggsa","synonyms":["CSNB Riggs type"]},"cs":{"name":"Congenital stationary night blindness, Riggs type","synonyms":["CSNB Riggs type"]}},"xrefs":[{"source":"OMIM","code":"163500","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"610444","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"610445","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613830","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616389","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"H53.6","qualifier":"NTBT","icd_relation":"attributed","validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":215,"name":"Congenital stationary night blindness","classifications":[156,189]}],"children":[],"genes":[{"symbol":"GNAT1","name":"G protein subunit alpha transducin 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"8673138[PMID]_22190596[PMID]","hgnc":"4393","ensembl":"ENSG00000114349","omim":"139330","loci":["3p21.31"]},{"symbol":"PDE6B","name":"phosphodiesterase 6B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"8075643[PMID]","hgnc":"8786","ensembl":"ENSG00000133256","omim":"180072","loci":["4p16.3"]},{"symbol":"RHO","name":"rhodopsin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"9888392[PMID]","hgnc":"10012","ensembl":"ENSG00000163914","omim":"180380","loci":["3q22.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}