{"orpha":699812,"name":"Adult CLN5 disease","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Adult neuronal ceroid lipofuscinosis type 5"],"definition":null,"note":"This disease is described under CLN5 disease","url":"https://raremap.alftech.space/d/ORPHA-699812/","orphanet_url":"https://www.orpha.net/en/disease/detail/699812","names":{"fr":{"name":"Maladie CLN5 adulte","synonyms":["Céroïde lipofuscinose neuronale adulte type 5"]},"de":{"name":"CLN5-Krankheit, adulte","synonyms":["Adult neuronale Ceroid-Lipofuszinose Typ 5"]},"es":{"name":"Enfermedad CLN5 del adulto","synonyms":["Lipofuscinosis ceroidea neuronal del adulto tipo 5"]},"it":{"name":"Malattia CLN5 dell'adulto","synonyms":["Ceroidolipofuscinosi neuronale dell’adulto tipo 5"]},"nl":{"name":"Volwassen CLN5-ziekte","synonyms":["Volwassen neuronale ceroïdlipofuscinose type 5"]},"pt":{"name":"Adult CLN5 disease"},"pl":{"name":"Adult CLN5 disease","synonyms":["Adult neuronal ceroid lipofuscinosis type 5"]},"cs":{"name":"Adult CLN5 disease","synonyms":["Adult 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}