{"orpha":2777,"name":"Osteomesopyknosis","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Axial osteosclerosis","Osteomesopycnosis"],"definition":"Osteomesopyknosis is a very rare benign bone disorder characterized by bone dysplasia manifested by patchy sclerosis of the axial skeleton and increased bone mineral content.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2777/","orphanet_url":"https://www.orpha.net/en/disease/detail/2777","names":{"fr":{"name":"Ostéomésopycnose","synonyms":["Ostéosclérose axiale"],"definition":"L'ostéomésopycnose est une maladie osseuse bénigne très rare caractérisée par une dysplasie qui se manifeste par une sclérose en aires de l'axe squelettique et une hyperdensité minérale osseuse."},"de":{"name":"Osteomesopyknose","synonyms":["Osteosklerose, axiale"],"definition":"Die Osteomesopyknose ist eine sehr seltene benigne Knochenerkrankung und gekennzeichnet durch eine Knochendysplasie, die sich als fleckförmige Sklerose des Achsenskeletts und erhöhte Knochen-Mineraldichte manifestiert."},"es":{"name":"Osteomesopicnosis","synonyms":["Osteosclerosis axial"],"definition":"La osteomesopicnosis es un trastorno óseo benigno muy raro, caracterizado por una displasia ósea que se manifiesta por una esclerosis irregular del esqueleto axial y un incremento del contenido mineral de los huesos."},"it":{"name":"Osteomesopicnosi","synonyms":["Osteosclerosi assiale"],"definition":"L'osteomesopicnosi è una malattia scheletrica molto rara, caratterizzata da una displasia scheletrica che si estrinseca con una sclerosi non uniforme dello scheletro assiale e con un aumento del contenuto minerale dell'osso."},"nl":{"name":"Osteomesopycnose","synonyms":["Axiale osteosclerose"],"definition":"Osteomesopycnose is een zeer zeldzame goedaardige botziekte gekenmerkt door botdysplasie gemanifesteerd door ongelijkmatige sclerose van het axiale skelet en een verhoogd botmineraalgehalte."},"pt":{"name":"Osteomesopicnose","synonyms":["Osteosclerose axial"],"definition":"A osteomesopicnose é um distúrbio ósseo benigno muito raro caracterizado por displasia óssea manifestada por esclerose irregular do esqueleto axial e aumento do conteúdo mineral ósseo."},"pl":{"name":"Osteoskleroza osiowa","synonyms":["Osteoskleroza osiowa","Osteomezopyknoza"],"definition":"Osteoskleroza osiowa jest bardzo rzadką łagodną chorobą kostną, charakteryzującą się dysplazją kości, objawiającą się nierównomiernym stwardnieniem kośćca osiowego tułowia i głowy oraz zwiększoną zawartością minerałów w kościach."},"cs":{"name":"Osteomezopyknóza","synonyms":["Axiální osteoskleróza"]},"uk":{"name":"Остеомезопікноз","synonyms":["Аксіальний остеосклероз","Остеомезопікноз"],"definition":"Osteomesopyknosis is a very rare benign bone disorder characterized by bone dysplasia manifested by patchy sclerosis of the axial skeleton and increased bone mineral content."},"zh":{"name":"中轴骨硬化","synonyms":["轴向骨硬化"]},"tr":{"name":"Osteomezopiknoz","synonyms":["Aksiyal osteoskleroz"]}},"xrefs":[{"source":"OMIM","code":"166450","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q78.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.10","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"455371627"},{"source":"MONDO","code":"0008155","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537792","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0432264","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"391","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":2781,"name":"Osteopetrosis and related disorders","classifications":[147,156,199,233]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":35.0,"area":"Worldwide","status":"Validated","source":"26185059[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26185059[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0011001","label":"Increased bone mineral density","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003312","label":"Abnormal form of the vertebral bodies","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100861","label":"Sclerotic vertebral body","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003103","label":"Abnormal cortical bone morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001939","label":"Abnormality of metabolism/homeostasis","frequency":"Occasional (29-5%)","criteria":null}]}}