{"orpha":309789,"name":"Rhizomelic chondrodysplasia punctata type 1","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-309789/","orphanet_url":"https://www.orpha.net/en/disease/detail/309789","names":{"fr":{"name":"Chondrodysplasie ponctuée rhizomélique type 1"},"de":{"name":"Chondrodysplasia punctata, rhizomele, Typ 1"},"es":{"name":"Condrodisplasia punctata rizomélica tipo 1"},"it":{"name":"Condrodisplasia puntata rizomelica, tipo 1"},"nl":{"name":"Rhizomele chondrodysplasia punctata type 1"},"pt":{"name":"Condrodisplasia punctata rizomélica, tipo 1"},"pl":{"name":"Rizomeliczna chondrodysplazja punktowa typu 1"},"cs":{"name":"Rhizomelická chondrodysplasia punctata, typ 1"},"uk":{"name":"Різомелічна точкова хондродисплазія, тип 1"},"zh":{"name":"肢根斑点状软骨发育异常1型"},"tr":{"name":"Rizomelik kondrodisplazi punktata tip 1"}},"xrefs":[{"source":"OMIM","code":"215100","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":"44503513"},{"source":"MONDO","code":"0008972","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C531651","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1859133","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6049","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":"PEX7","name":"peroxisomal biogenesis factor 7","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21990100[PMID]","hgnc":"8860","ensembl":"ENSG00000112357","omim":"601757","loci":["6q23.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}