{"orpha":216972,"name":"Niemann-Pick disease type C, severe perinatal form","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":"This disease is described under Niemann-Pick disease type C","url":"https://raremap.alftech.space/d/ORPHA-216972/","orphanet_url":"https://www.orpha.net/en/disease/detail/216972","names":{"fr":{"name":"Maladie de Niemann-Pick type C, forme périnatale sévère"},"de":{"name":"Niemann-Pick-Krankheit Typ C, schwere perinatale Form"},"es":{"name":"Enfermedad de Niemann-Pick tipo C, forma perinatal grave"},"it":{"name":"Malattia di Niemann-Pick tipo C, forma perinatale grave"},"nl":{"name":"Ziekte van Niemann-Pick type C, ernstig perinataal"},"pt":{"name":"Doença de Niemann-Pick tipo C perinatal grave"},"pl":{"name":"Choroba Niemanna i Picka typu C, ciężka postać prenatalna"},"cs":{"name":"Niemannova-Pickova nemoc, typ C, těžká perinatální forma","synonyms":["Niemann-Pickova nemoc, typ C, těžká perinatální forma"]},"uk":{"name":"Хвороба Німана-Піка, тип С, тяжка перинатальна форма"},"zh":{"name":"严重围产期型尼曼-皮克病C型"},"tr":{"name":"Niemann-Pick hastalığı tip C, ağır perinatal form"}},"xrefs":[{"source":"ICD-10","code":"E75.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C56.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"791115227"},{"source":"MONDO","code":"0016306","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680866","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":646,"name":"Niemann-Pick disease type C","classifications":[150,152,156,181,184,189,233]}],"children":[],"genes":[{"symbol":"NPC1","name":"NPC intracellular cholesterol transporter 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301473[PMID]","hgnc":"7897","ensembl":"ENSG00000141458","omim":"607623","loci":["18q11.2"]},{"symbol":"NPC2","name":"NPC intracellular cholesterol transporter 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301473[PMID]","hgnc":"14537","ensembl":"ENSG00000119655","omim":"601015","loci":["14q24.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[],"phenotypes":null}