{"orpha":93297,"name":"Hypochondrogenesis","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":"This disease is described under Achondrogenesis","url":"https://raremap.alftech.space/d/ORPHA-93297/","orphanet_url":"https://www.orpha.net/en/disease/detail/93297","names":{"fr":{"name":"Hypochondrogenèse"},"de":{"name":"Hypochondrogenesie"},"es":{"name":"Hipocondrogénesis"},"it":{"name":"Ipocondrogenesi"},"nl":{"name":"Hypochondrogenese"},"pt":{"name":"Hipocondrogenese"},"pl":{"name":"Hipochondrogeneza"},"cs":{"name":"Hypochondrogeneze"},"uk":{"name":"Іпохондрогенез"},"zh":{"name":"软骨形成不足"},"tr":{"name":"Hipokondrogenez"}},"xrefs":[{"source":"OMIM","code":"200610","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q77.0","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"LD24.51","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1494246635"},{"source":"MONDO","code":"0019669","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C563007","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0542428","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":932,"name":"Achondrogenesis","classifications":[147,156,199]},{"orpha":93421,"name":"Type 2 collagen-related bone disorder","classifications":[156]}],"children":[],"genes":[{"symbol":"COL2A1","name":"collagen type II alpha 1 chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"10797431[PMID]","hgnc":"2200","ensembl":"ENSG00000139219","omim":"120140","loci":["12q13.11"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}