{"orpha":699807,"name":"Juvenile CLN5 disease","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Juvenile neuronal ceroid lipofuscinosis type 5"],"definition":null,"note":"This disease is described under CLN5 disease","url":"https://raremap.alftech.space/d/ORPHA-699807/","orphanet_url":"https://www.orpha.net/en/disease/detail/699807","names":{"fr":{"name":"Maladie CLN5 juvénile","synonyms":["Céroïde lipofuscinose neuronale juvénile type 5"]},"de":{"name":"CLN5-Krankheit, juvenile","synonyms":["Juvenile neuronale Ceroid-Lipofuszinose Typ 5"]},"es":{"name":"Enfermedad CLN5 juvenil","synonyms":["Lipofuscinosis ceroidea neuronal juvenil tipo 5"]},"it":{"name":"Malattia CLN5 giovanile","synonyms":["Ceroidolipofuscinosi neuronale giovanile tipo 5"]},"nl":{"name":"Juveniele CLN5-ziekte","synonyms":["Juveniele neuronale ceroïdlipofuscinose type 5"]},"pt":{"name":"Juvenile CLN5 disease"},"pl":{"name":"Juvenile CLN5 disease","synonyms":["Juvenile neuronal ceroid lipofuscinosis type 5"]},"cs":{"name":"Juvenile CLN5 disease","synonyms":["Juvenile neuronal ceroid lipofuscinosis type 5"]}},"xrefs":[{"source":"OMIM","code":"256731","qualifier":"NTBT","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":228360,"name":"CLN5 disease","classifications":[150,156,181,189]}],"children":[],"genes":[{"symbol":"CLN5","name":"CLN5 lysosomal BMP synthase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"2412666[PMID]_34733232[PMID]_34684815[PMID]","hgnc":"2076","ensembl":"ENSG00000102805","omim":"608102","loci":["13q22.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}