{"orpha":699796,"name":"Protracted juvenile CLN3 disease","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Protacted neuronal ceroid lipofuscinosis type 3"],"definition":null,"note":"This disease is described under CLN3 disease","url":"https://raremap.alftech.space/d/ORPHA-699796/","orphanet_url":"https://www.orpha.net/en/disease/detail/699796","names":{"fr":{"name":"Maladie CLN3 juvénile prolongée","synonyms":["Céroïde lipofuscinose neuronale juvénile prolongée type 3"]},"de":{"name":"Protrahierte juvenile neuronale Ceroid-Lipofuszinose Typ 3","synonyms":["CLN3-Krankheit, juvenile protrahierte"]},"es":{"name":"Enfermedad CLN3 juvenil prolongada","synonyms":["Lipofuscinosis ceroidea neuronal prolongada tipo 3"]},"it":{"name":"Malattia CLN3 giovanile a decorso prolungato","synonyms":["Ceroidolipofuscinosi neuronale a decorso prolungato tipo 3"]},"nl":{"name":"Geprotraheerde juveniele CLN3-ziekte","synonyms":["Aanhoudende juveniele CLN3-ziekte","Geprotraheerde neuronale ceroïdlipofuscinose type 3","Langdurige juveniele CLN3-ziekte"]},"pt":{"name":"Protracted juvenile CLN3 disease"},"pl":{"name":"Protracted juvenile CLN3 disease","synonyms":["Protacted neuronal ceroid lipofuscinosis type 3"]},"cs":{"name":"Protracted juvenile CLN3 disease","synonyms":["Protacted neuronal ceroid lipofuscinosis type 3"]}},"xrefs":[{"source":"OMIM","code":"204200","qualifier":"NTBT","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":228346,"name":"CLN3 disease","classifications":[150,156,181,189]}],"children":[],"genes":[{"symbol":"CLN3","name":"CLN3 lysosomal/endosomal transmembrane protein, battenin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"15965709[PMID]","hgnc":"2074","ensembl":"ENSG00000188603","omim":"607042","loci":["16p12.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}