{"orpha":714070,"name":"Incomplete congenital stationary night blindness, Schubert-Bornschein type","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Incomplete congenital stationary night blindness","iCSNB"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-714070/","orphanet_url":"https://www.orpha.net/en/disease/detail/714070","names":{"fr":{"name":"Cécité nocturne stationnaire congénitale incomplète type Schubert-Bornschein","synonyms":["CNSCi","Cécité nocturne stationnaire congénitale incomplète"]},"de":{"name":"Unvollständige kongenitale stationäre Nachtblindheit Typ Schubert-Bornschein","synonyms":["Unvollständige angeborene stationäre Nachtblindheit","iCSNB"]},"es":{"name":"Ceguera nocturna estacionaria congénita incompleta, tipo Schubert-Bornschein","synonyms":["Ceguera nocturna estacionaria congénita incompleta","CSNB incompleta","iCSNB"]},"it":{"name":"Cecità notturna stazionaria congenita incompleta, tipo Schubert-Bornschein","synonyms":["Cecità notturna stazionaria congenita incompleta","iCSNB"]},"nl":{"name":"Onvolledige congenitale stationaire nachtblindheid, Schubert-Bornschein-type","synonyms":["iCSNB","Onvolledige congenitale stationaire nachtblindheid"]},"pt":{"name":"Incomplete congenital stationary night blindness"},"pl":{"name":"Niepełna wrodzona stacjonarna ślepota nocna","synonyms":["Incomplete congenital stationary night blindness","iCSNB"]},"cs":{"name":"Incomplete congenital stationary night blindness, Schubert-Bornschein type","synonyms":["Incomplete congenital stationary night blindness","iCSNB"]}},"xrefs":[{"source":"OMIM","code":"300071","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"300427","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"610478","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":"CABP4","name":"calcium binding protein 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"16960802[PMID]","hgnc":"1386","ensembl":"ENSG00000175544","omim":"608965","loci":["11q13.2"]},{"symbol":"CACNA1F","name":"calcium voltage-gated channel subunit alpha1 F","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301423[PMID]","hgnc":"1393","ensembl":"ENSG00000102001","omim":"300110","loci":["Xp11.23"]},{"symbol":"CACNA2D4","name":"calcium voltage-gated channel auxiliary subunit alpha2delta 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19578023[PMID]","hgnc":"20202","ensembl":"ENSG00000151062","omim":"608171","loci":["12p13.33"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive","X-linked recessive"],"onset":[],"prevalence":[],"phenotypes":null}