{"orpha":700487,"name":"Congenital CLN10 disease","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["CNCL","Congenital neuronal ceroid lipofuscinosis type 10"],"definition":null,"note":"This disease is described under CLN10 disease","url":"https://raremap.alftech.space/d/ORPHA-700487/","orphanet_url":"https://www.orpha.net/en/disease/detail/700487","names":{"fr":{"name":"Maladie CLN10 congénitale","synonyms":["CNCL","Céroïde lipofuscinose neuronale congénitale type 10"]},"de":{"name":"CLN10-Krankheit, kongenitale","synonyms":["CNCL","Kongenitale neuronale Ceroid-Lipofuszinose Typ 10"]},"es":{"name":"Enfermedad CLN10 congénita","synonyms":["CNCL","Lipofuscinosis ceroidea neuronal congénita tipo 10"]},"it":{"name":"Malattia CLN10 congenita","synonyms":["CNCL","Ceroidolipofuscinosi neuronale congenita tipo 10"]},"nl":{"name":"Congenitale CLN10-ziekte","synonyms":["CNCL","Congenitale neuronale ceroïdlipofuscinose type 10"]},"pt":{"name":"Congenital CLN1 disease"},"pl":{"name":"Congenital CLN10 disease","synonyms":["CNCL","Congenital neuronal ceroid lipofuscinosis type 10"]},"cs":{"name":"Congenital CLN10 disease","synonyms":["CNCL","Congenital neuronal ceroid lipofuscinosis type 10"]}},"xrefs":[{"source":"OMIM","code":"610127","qualifier":"NTBT","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":228337,"name":"CLN10 disease","classifications":[150,156,181,189]}],"children":[],"genes":[{"symbol":"CTSD","name":"cathepsin D","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"32412666[PMID]_34733232[PMID]_34684815[PMID]","hgnc":"2529","ensembl":"ENSG00000117984","omim":"116840","loci":["11p15.5"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}