{"orpha":700124,"name":"Autosomal recessive hereditary chronic pancreatitis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-700124/","orphanet_url":"https://www.orpha.net/en/disease/detail/700124","names":{"fr":{"name":"Pancréatite chronique héréditaire autosomique récessive"},"de":{"name":"Pankreatitis, chronische hereditäre, autosomal-rezessive"},"es":{"name":"Pancreatitis crónica hereditaria autosómica recesiva"},"it":{"name":"Pancreatite cronica ereditaria autosomica recessiva"},"nl":{"name":"Autosomaal recessieve hereditaire chronische pancreatitis","synonyms":["Autosomaal recessieve erfelijke alvleesklierontsteking"]},"pt":{"name":"Autosomal recessive hereditary chronic pancreatitis"},"pl":{"name":"Autosomal recessive hereditary chronic pancreatitis"},"cs":{"name":"Autosomal recessive hereditary chronic pancreatitis"}},"xrefs":[{"source":"OMIM","code":"167800","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"K86.1","qualifier":"NTBT","icd_relation":"attributed","validated":false},{"source":"ICD-11","code":"DC32.2","qualifier":"NTBT","icd_relation":"attributed","validated":false}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97935,"name":"Rare gastroenterologic disease"},"parents":[{"orpha":165661,"name":"Genetic pancreatic disease","classifications":[156]},{"orpha":101937,"name":"Rare pancreatic disease","classifications":[152]}],"children":[],"genes":[{"symbol":"CFTR","name":"CF transmembrane conductance regulator","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"22572128[PMID]","hgnc":"1884","ensembl":"ENSG00000001626","omim":"602421","loci":["7q31.2"]},{"symbol":"SPINK1","name":"serine peptidase inhibitor Kazal type 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"17274009[PMID]","hgnc":"11244","ensembl":"ENSG00000164266","omim":"167790","loci":["5q32"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}