{"orpha":86789,"name":"Isolated patella aplasia/hypoplasia","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["PTLAH"],"definition":"Isolated patella aplasia-hypoplasia is an extremely rare genetic condition characterized by congenital absence or marked reduction of the patellar bone described in only a few families to date.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-86789/","orphanet_url":"https://www.orpha.net/en/disease/detail/86789","names":{"fr":{"name":"Aplasie/hypoplasie de la rotule isolée","synonyms":["Aplasie/hypoplasie patellaire isolée"],"definition":"Maladie génétique extrêmement rare caractérisée par l'absence congénitale ou une réduction marquée de la patella, décrite à ce jour dans quelques familles seulement."},"de":{"name":"Patella-Aplasie/Hypoplasie, isolierte","synonyms":["Familiäre Aplasie oder Hypoplasie der Patella","PTLAH"],"definition":"Die Isolierte Patella-Aplasie/-Hypoplasie ist eine extrem seltene, bisher nur in wenigen Familien beschriebene erbliche Veränderung, gekennzeichnet durch kongenitales Fehlen oder starke Reduktion der Patella."},"es":{"name":"Aplasia/hipoplasia aislada de rótula","synonyms":["PTLAH"],"definition":"La aplasia/hipoplasia de rótula aislada es una enfermedad genética extremadamente poco frecuente que se caracteriza por la ausencia congénita o por la reducción marcada del hueso rotular. Tan solo ha sido descrita en unas pocas familias hasta la fecha."},"it":{"name":"Aplasia/ipoplasia isolata della rotula","synonyms":["PTLAH"],"definition":"L'aplasia-ipoplasia isolata della rotula è una malattia genetica estremamente rara caratterizzata dall'assenza congenita o dalla marcata ipoplasia dell'osso patellare, descritta finora solo in poche famiglie."},"nl":{"name":"Geïsoleerde aplasie/hypoplasie van patella","synonyms":["Geïsoleerde aplasie/hypoplasie van knieschijf","PTLAH"],"definition":"Een uiterst zeldzame genetische aandoening, gekenmerkt door congenitale afwezigheid of aanzienlijke reductie van patella, tot op heden beschreven bij slechts enkele families."},"pt":{"name":"Aplasia-hipoplasia isolada da rótula","synonyms":["PTLAH"]},"pl":{"name":"Izolowana aplazja/hipoplazja rzepki","synonyms":["PTLAH"]},"cs":{"name":"Aplázie/hypoplázie patelly","synonyms":["PTLAH"]},"uk":{"name":"Ізольована аплазія/гіпоплазія надколінка","synonyms":["PTLAH"],"definition":"Isolated patella aplasia-hypoplasia is an extremely rare genetic condition characterized by congenital absence or marked reduction of the patellar bone described in only a few families to date."},"zh":{"name":"髌骨不发育/发育不全","synonyms":["PTLAH"]},"tr":{"name":"Patella aplazisi / hipoplazi","synonyms":["PTLAH"]}},"xrefs":[{"source":"OMIM","code":"168860","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q74.1","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"LB95","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"88577362"},{"source":"MONDO","code":"0008205","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535568","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1868577","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8709","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":295038,"name":"OBSOLETE: Patella aplasia/hypoplasia, unilateral","status":"inactive"},{"type":"Referred to","orpha":295041,"name":"OBSOLETE: Patella aplasia/hypoplasia, bilateral","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":109011,"name":"Non-syndromic limb malformation","classifications":[147,156]},{"orpha":93455,"name":"Patellar dysostosis","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_11857555[PMID]"},{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"11857555[PMID]"}],"phenotypes":null}