{"orpha":404571,"name":"Dysostosis of genetic origin with limb anomaly as a major feature","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"definition":null,"note":"This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.","url":"https://raremap.alftech.space/d/ORPHA-404571/","orphanet_url":"https://www.orpha.net/en/disease/detail/404571","names":{"fr":{"name":"Dysostose d'origine génétique avec anomalie des membres comme manifestation majeure"},"de":{"name":"Genetisch bedingte Dysostose mit Extremitätenanomlie als Hauptmerkmal"},"es":{"name":"Disostosis de origen genético con anomalías de las extremidades como característica principal"},"it":{"name":"Disostosi di origine genetica con anomalia degli arti come segno cardinale"},"nl":{"name":"Dysostose van genetische oorsprong met ledemaatanomalie als hoofdkenmerk"},"pt":{"name":"Disostose de origem genética com anomalia nos membros como característica principal"},"pl":{"name":"Dyzostoza pochodzenia genetycznego z anomaliami kończyn jako głównym objawem"},"cs":{"name":"Dysostózy genetického původu s anomáliemi končetin jako hlavním příznakem"},"uk":{"name":"Генетично обумовлений дизостоз з аномалією кінцівок як основною ознакою"},"zh":{"name":"以肢体异常为主要特征的遗传性骨发育不全"},"tr":{"name":"Esas klinik özelliği ekstremite anomalisi olan genetik kökenli disostoz"}},"xrefs":[{"source":"MONDO","code":"18455","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681143","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":404568,"name":"Dysostosis of genetic origin","classifications":[156]}],"children":[{"orpha":364198,"name":"Bipartite talus","type":"Morphological anomaly"},{"orpha":488434,"name":"Camptodactyly syndrome, Guadalajara type 3","type":"Malformation syndrome"},{"orpha":69028,"name":"Dysostosis with brachydactyly","type":"Category"},{"orpha":294957,"name":"Dysostosis with combined reduction defects of upper and lower limbs","type":"Category"},{"orpha":364571,"name":"Dysostosis with limb and face anomalies as a major feature","type":"Category"},{"orpha":498477,"name":"Ectrodactyly with and without other manifestations","type":"Category"},{"orpha":3023,"name":"External auditory canal atresia-vertical talus-hypertelorism syndrome","type":"Malformation syndrome"},{"orpha":199315,"name":"Familial clubfoot with or without associated lower limb anomalies","type":"Malformation syndrome"},{"orpha":404574,"name":"Genetic syndrome with limb reduction defects","type":"Category"},{"orpha":228184,"name":"Heart-hand syndrome","type":"Category"},{"orpha":157808,"name":"Isolated pseudoarthrosis of the limbs","type":"Morphological anomaly"},{"orpha":294949,"name":"Non-syndromic joint formation defects","type":"Category"},{"orpha":93457,"name":"Non-syndromic limb reduction defect","type":"Category"},{"orpha":93458,"name":"Non-syndromic polydactyly, syndactyly and/or hyperphalangy","type":"Category"},{"orpha":2793,"name":"Otoonychoperoneal syndrome","type":"Malformation syndrome"},{"orpha":294959,"name":"Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy","type":"Category"},{"orpha":93459,"name":"Syndrome with synostosis or other joint formation defect","type":"Category"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}