{"orpha":251262,"name":"Familial osteochondritis dissecans","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Osteochondritis dissecans and short stature"],"definition":"Familial osteochondritis dissecans is a rare genetic skeletal disorder characterized clinically by abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-251262/","orphanet_url":"https://www.orpha.net/en/disease/detail/251262","names":{"fr":{"name":"Ostéochondrite disséquante familiale","synonyms":["Ostéochondrite disséquante et petite taille"],"definition":"Maladie génétique rare du squelette qui se caractérise sur le plan clinique par un développement chondro-squelettique anormal, une petite taille disproportionnée et une déformation squelettique touchant principalement les genoux, les hanches, les chevilles et les coudes, apparaissant généralement à la fin de l'enfance ou à l'adolescence."},"de":{"name":"Osteochondrosis dissecans, familiäre","synonyms":["Osteochondritis dissecans und Kleinwuchs"],"definition":"Die Familiäre Osteochondritis dissecans ist eine seltene Skeletterkrankung. Klinische Merkmale sind abnorme Entwicklung des Knorpel-Skelett-Systems, disproportionierter Kleinwuchs und meist im späten Kindesalter oder in der Adoleszenz auftretende Skelettdeformitäten vor allem der Knie, Hüften, Fußknöchel und Ellenbogen."},"es":{"name":"Osteocondritis disecante familiar","synonyms":["Osteocondritis disecante y talla baja"],"definition":"La osteocondritis disecante familiar es un trastorno esquelético genético raro que se caracteriza clínicamente por: desarrollo condroesquelético anómalo, estatura baja desproporcionada y deformaciones esqueléticas que afectan principalmente a rodillas, caderas, tobillos y codos. La aparición suele darse al final de la infancia o en la adolescencia."},"it":{"name":"Osteocondrite dissecante familiare","synonyms":["Osteocondrite dissecante e bassa statura"],"definition":"L'osteocondrite dissecante familiare è una malattia scheletrica rara, di origine genetica, caratterizzata da uno sviluppo condro-scheletrico anomalo, bassa statura sproporzionata e deformità scheletriche, che interessano prevalentemente le ginocchia, le anche, le caviglie e i gomiti, con un esordio, in genere, nella tarda infanzia o nell'adolescenza."},"nl":{"name":"Familiale osteochondritis dissecans","synonyms":["Osteochondritis dissecans en kleine gestalte"],"definition":"Een zeldzame, genetische aandoening van skelet, klinisch gekenmerkt door abnormale ontwikkeling van kraakbeenskelet, disproportionele kleine gestalte, en skeletmisvorming die vooral knie, heup, enkel en elleboog aantast, doorgaans met aanvang in de late kindertijd of adolescentie."},"pt":{"name":"Osteocondrite dissecante familiar","synonyms":["Osteocondrite dissecante e baixa estatura"]},"pl":{"name":"Rodzinna oddzielająca jałowa martwica kostno-chrzęstna","synonyms":["Oddzielająca jałowa martwica kostno-chrzęstna i niski wzrost"]},"cs":{"name":"Familiární osteochondritis dissecans","synonyms":["Osteochondritis dissecans a nízký vzrůst"]},"uk":{"name":"Сімейний остеохондроз розсіяний","synonyms":["Остеохондроз дисекантний і низький зріст"],"definition":"Familial osteochondritis dissecans is a rare genetic skeletal disorder characterized clinically by abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence."},"zh":{"name":"家族性剥脱性骨软骨炎","synonyms":["剥脱性骨软骨炎和身材矮小"],"definition":"家族性剥脱性骨软骨炎是一种罕见的遗传性骨骼疾病，临床上以软骨骨骼发育异常、不成比例的矮小和骨骼变形为特征，主要累及膝关节、髋关节、踝关节和肘部，一般起病于儿童晚期或青春期。"},"tr":{"name":"Ailesel osteokondrit dissecans","synonyms":["Osteokondritis dissekans ve kısa boy"]}},"xrefs":[{"source":"ICD-10","code":"M93.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"FB82.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"117325330"},{"source":"MONDO","code":"0100462","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C580095","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3665488","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4133","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":399158,"name":"Osteonecrosis","classifications":[196,199]},{"orpha":399380,"name":"Osteonecrosis of genetic origin","classifications":[156]},{"orpha":674499,"name":"Proteoglycan-related bone disorder","classifications":[156]}],"children":[],"genes":[{"symbol":"ACAN","name":"aggrecan","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20137779[PMID]","hgnc":"319","ensembl":"ENSG00000157766","omim":"155760","loci":["15q26.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}