{"orpha":714079,"name":"Complete congenital stationary night blindness, Schubert-Bornschein type","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Complete congenital stationary night blindness","cCSNB"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-714079/","orphanet_url":"https://www.orpha.net/en/disease/detail/714079","names":{"fr":{"name":"Cécité nocturne stationnaire congénitale complète type Schubert-Bornschein","synonyms":["CNSC complète","Cécité nocturne stationnaire congénitale complète"]},"de":{"name":"Vollständige kongenitale stationäre Nachtblindheit Typ Schubert-Bornschein","synonyms":["Vollständige angeborene stationäre Nachtblindheit","cCSNB"]},"es":{"name":"Ceguera nocturna estacionaria congénita completa, tipo Schubert-Bornschein","synonyms":["CSNB completa","cCSNB","Ceguera nocturna estacionaria congénita completa"]},"it":{"name":"Cecità notturna stazionaria congenita completa, tipo Schubert-Bornschein","synonyms":["Cecità notturna stazionaria congenita completa","cCSNB"]},"nl":{"name":"Volledige congenitale stationaire nachtblindheid, Schubert-Bornschein-type","synonyms":["cCSNB","Volledige congenitale stationaire nachtblindheid"]},"pt":{"name":"Complete congenital stationary night blindness"},"pl":{"name":"Całkowita wrodzona stacjonarna ślepota nocna","synonyms":["Complete congenital stationary night blindness","cCSNB"]},"cs":{"name":"Complete congenital stationary night blindness, Schubert-Bornschein type","synonyms":["Complete congenital stationary night blindness","cCSNB"]}},"xrefs":[{"source":"OMIM","code":"257270","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"310500","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"610445","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613216","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614565","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615058","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617024","qualifier":"BTNT","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":714090,"name":"Congenital stationary night blindness, Schubert-Bornschein type","classifications":[156,189]}],"children":[],"genes":[{"symbol":"GPR179","name":"G protein-coupled receptor 179","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22325361[PMID]_22325362[PMID]","hgnc":"31371","ensembl":"ENSG00000277399","omim":"614515","loci":["17q12"]},{"symbol":"GRM6","name":"glutamate metabotropic receptor 6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"17405131[PMID]","hgnc":"4598","ensembl":"ENSG00000113262","omim":"604096","loci":["5q35.3"]},{"symbol":"LRIT3","name":"leucine rich repeat, Ig-like and transmembrane domains 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23246293[PMID]","hgnc":"24783","ensembl":"ENSG00000183423","omim":"615004","loci":["4q25"]},{"symbol":"TRPM1","name":"transient receptor potential cation channel subfamily M member 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19896109[PMID]_19896113[PMID]","hgnc":"7146","ensembl":"ENSG00000134160","omim":"603576","loci":["15q13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}