{"orpha":2781,"name":"Osteopetrosis and related disorders","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"definition":"Osteopetrosis, also known as marble bone disease, is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2781/","orphanet_url":"https://www.orpha.net/en/disease/detail/2781","names":{"fr":{"name":"Ostéopétrose et maladies associées","definition":"L'ostéopétrose («maladie des os de marbre») est un terme descriptif qui se réfère à un groupe d'anomalies osseuses rares et héréditaires, caractérisées par une augmentation de la densité osseuse due à un défaut de développement ou de fonction des ostéoclastes."},"de":{"name":"Osteopetrose und verwandte Krankheiten","definition":"Der Terminus Osteopetrose ('Marmorknochenkrankheit'') bezieht sich auf eine Gruppe seltener, erblicher Krankheiten des Skeletts, die im Röntgenbild durch erhöhte Knochendichte gekennzeichnet sind."},"es":{"name":"Osteopetrosis","definition":"La osteopetrosis, también conocida como enfermedad de huesos de mármol, es un término descriptivo que se refiere a un grupo de trastornos raros y hereditarios del esqueleto caracterizados por un incremento en la densidad ósea en las radiografías."},"it":{"name":"Osteopetrosi","definition":"Il termine osteopetrosi (malattia delle \"ossa di marmo\") descrive un gruppo di malattie rare ereditarie dello scheletro, caratterizzate da un aumento della densità ossea sulle radiografie, causata da un difetto dello sviluppo o della funzione degli osteoclasti."},"nl":{"name":"Osteopetrose en gerelateerde aandoeningen","definition":"Osteopetrose, ook gekend als marmerbotziekte, is een beschrijvende term die verwijst naar een groep van zeldzame, erfelijke aandoeningen van skelet, gekenmerkt door verhoogde botdensiteit op radiografische opnames."},"pt":{"name":"Osteopetrose","definition":"A osteopetrose (\"doença esquelética marmórea\") é um termo descritivo que se refere a um grupo de doenças hereditárias raras do esqueleto caracterizadas por densidade óssea aumentada na radiografia."},"pl":{"name":"Osteopetroza"},"cs":{"name":"Osteopetróza a související poruchy"},"uk":{"name":"Остеопетроз та повязані з ним захворювання","definition":"Osteopetrosis, also known as marble bone disease, is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs."},"zh":{"name":"骨硬化症及其相关疾病"},"tr":{"name":"Osteopetroz ve -ilişkili bozukluklar"}},"xrefs":[{"source":"ICD-10","code":"Q78.2","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LD24.10","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1498426606"},{"source":"MONDO","code":"0017198","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"17198","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D010022","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0029454","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4155","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10031280","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93444,"name":"Primary bone dysplasia with increased bone density","classifications":[147,156,199]},{"orpha":506219,"name":"Rare disorder potentially indicated for hematopoietic stem cell transplant","classifications":[233]}],"children":[{"orpha":94063,"name":"12q14 microdeletion syndrome","type":"Malformation syndrome"},{"orpha":53,"name":"Albers-Schönberg osteopetrosis","type":"Malformation syndrome"},{"orpha":2783,"name":"Autosomal dominant osteopetrosis type 1","type":"Malformation syndrome"},{"orpha":667,"name":"Autosomal recessive malignant osteopetrosis","type":"Malformation syndrome"},{"orpha":603494,"name":"Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome","type":"Malformation syndrome"},{"orpha":1782,"name":"Dysosteosclerosis","type":"Malformation syndrome"},{"orpha":556985,"name":"Early-onset calcifying leukoencephalopathy-skeletal dysplasia","type":"Disease"},{"orpha":69088,"name":"Hypohidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome","type":"Disease"},{"orpha":85179,"name":"Infantile osteopetrosis with neuroaxonal dysplasia","type":"Malformation syndrome"},{"orpha":210110,"name":"Intermediate osteopetrosis","type":"Malformation syndrome"},{"orpha":166119,"name":"Isolated osteopoikilosis","type":"Disease"},{"orpha":99844,"name":"Leukocyte adhesion deficiency type III","type":"Clinical subtype"},{"orpha":2485,"name":"Melorheostosis","type":"Malformation syndrome"},{"orpha":1879,"name":"Melorheostosis with osteopoikilosis","type":"Malformation syndrome"},{"orpha":2777,"name":"Osteomesopyknosis","type":"Malformation syndrome"},{"orpha":2780,"name":"Osteopathia striata-cranial sclerosis syndrome","type":"Malformation syndrome"},{"orpha":2785,"name":"Osteopetrosis with renal tubular acidosis","type":"Disease"},{"orpha":178389,"name":"Osteopetrosis-hypogammaglobulinemia syndrome","type":"Disease"},{"orpha":500548,"name":"Osteosclerotic metaphyseal dysplasia","type":"Malformation syndrome"},{"orpha":763,"name":"Pycnodysostosis","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive","X-linked recessive"],"onset":["All ages"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":1.0,"area":"Europe","status":"Not yet validated","source":"16307387[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}