{"orpha":309796,"name":"Rhizomelic chondrodysplasia punctata type 2","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":"This disease is described under Rhizomelic chondrodysplasia punctata","url":"https://raremap.alftech.space/d/ORPHA-309796/","orphanet_url":"https://www.orpha.net/en/disease/detail/309796","names":{"fr":{"name":"Chondrodysplasie ponctuée rhizomélique type 2"},"de":{"name":"Chondrodysplasia punctata, rhizomele, Typ 2"},"es":{"name":"Condrodisplasia punctata rizomélica tipo 2"},"it":{"name":"Condrodisplasia puntata rizomelica, tipo 2"},"nl":{"name":"Rhizomele chondrodysplasia punctata type 2"},"pt":{"name":"Condrodisplasia punctata rizomélica, tipo 2"},"pl":{"name":"Rizomeliczna chondrodysplazja punktowa typu 2"},"cs":{"name":"Rhizomelická chondrodysplasia punctata, typ 2"},"uk":{"name":"Різомелічна точкова хондродисплазія, тип 2"},"zh":{"name":"肢近端型点状软骨发育不良2型"},"tr":{"name":"Rizomelik kondrodisplazi punktata tip 2"}},"xrefs":[{"source":"OMIM","code":"222765","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q77.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.04","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"179969811"},{"source":"MONDO","code":"0009112","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537607","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1857242","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":177,"name":"Rhizomelic chondrodysplasia punctata","classifications":[147,150,156,181,189,199]}],"children":[],"genes":[{"symbol":"GNPAT","name":"glyceronephosphate O-acyltransferase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21990100[PMID]","hgnc":"4416","ensembl":"ENSG00000116906","omim":"602744","loci":["1q42.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}