{"orpha":468717,"name":"Rhizomelic chondrodysplasia punctata type 5","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-468717/","orphanet_url":"https://www.orpha.net/en/disease/detail/468717","names":{"fr":{"name":"Chondrodysplasie ponctuée rhizomélique type 5"},"de":{"name":"Chondrodysplasia punctata, rhizomele, Typ 5"},"es":{"name":"Condrodisplasia punctata rizomélica tipo 5"},"it":{"name":"Condrodisplasia puntata rizomelica tipo 5"},"nl":{"name":"Rhizomele chondrodysplasia punctata type 5"},"pt":{"name":"Condrodisplasia pontuada rizomélica tipo 5"},"pl":{"name":"Rizomeliczna chondrodysplazja punktowa typu 5"},"cs":{"name":"Rhizomelická chondrodysplasia punctata, typ 5"},"uk":{"name":"Різомелінова точкова хондродисплазія, тип 5"},"zh":{"name":"根状软骨部分发育不良5型"},"tr":{"name":"Rizomelik kondrodisplazi punktata tip 5"}},"xrefs":[{"source":"OMIM","code":"616716","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":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0014743","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4225237","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":"PEX5","name":"peroxisomal biogenesis factor 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"26220973[PMID]","hgnc":"9719","ensembl":"ENSG00000139197","omim":"600414","loci":["12p13.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"26220973[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26220973[PMID]"}],"phenotypes":null}