{"orpha":93283,"name":"Spondyloepiphyseal dysplasia, Kimberley type","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Spondyloepiphyseal dysplasia, Kimberley type (SEDK) is characterized by short stature and premature degenerative arthropathy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-93283/","orphanet_url":"https://www.orpha.net/en/disease/detail/93283","names":{"fr":{"name":"Dysplasie spondylo-épiphysaire type Kimberley","definition":"La dysplasie spondyloépiphysaire type Kimberley (DSEK) se caractérise par une petite taille et une arthropathie dégénérative précoce."},"de":{"name":"Dysplasie, spondyloepiphysäre, Typ Kimberley"},"es":{"name":"Displasia espondiloepifisaria tipo Kimberley","definition":"La displasia espondiloepifisaria tipo Kimberley (DEEK) está caracterizada por talla baja y artropatía degenerativa precoz."},"it":{"name":"Displasia spondiloepifisaria, tipo Kimberley"},"nl":{"name":"Spondylo-epifysaire dysplasie, Kimberley-type","definition":"Spondylo-epifysaire dysplasie, Kimberley-type (SEDK), wordt gekenmerkt door kleine gestalte en premature degeneratieve artropathie."},"pt":{"name":"Displasia espondiloepifisária, tipo Kimberley"},"pl":{"name":"Dysplazja kręgowo-nasadowa typu Kimberley"},"cs":{"name":"Spondeloepifyzární dysplázie, typ Kimberley"},"uk":{"name":"Спондилоепіфізарна дисплазія, тип Кімберлі","definition":"Spondyloepiphyseal dysplasia, Kimberley type (SEDK) is characterized by short stature and premature degenerative arthropathy."},"zh":{"name":"脊椎骨骺发育不良，Kimberley 型","definition":"Kimberley type型脊椎骨骺发育不良（SEDK）的特征是身材矮小和过早的退行性关节病变。"},"tr":{"name":"Spondiloepifizyal displazi, Kimberley tipi"}},"xrefs":[{"source":"OMIM","code":"608361","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q77.7","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.3","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"485470320"},{"source":"MONDO","code":"0012019","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564252","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1842149","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":674499,"name":"Proteoglycan-related bone disorder","classifications":[156]},{"orpha":253,"name":"Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"ACAN","name":"aggrecan","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"16080123[PMID]","hgnc":"319","ensembl":"ENSG00000157766","omim":"155760","loci":["15q26.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"1978986[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0005930","label":"Abnormality of epiphysis morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002983","label":"Micromelia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002758","label":"Osteoarthritis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000926","label":"Platyspondyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003508","label":"Proportionate short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010306","label":"Short thorax","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002655","label":"Spondyloepiphyseal dysplasia","frequency":"Very frequent (99-80%)","criteria":null}]}}