{"orpha":316244,"name":"Partial deletion of the short arm of chromosome 12 syndrome","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Partial deletion of chromosome 12p","Partial monosomy of chromosome 12p","Partial monosomy of the short arm of chromosome 12"],"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-316244/","orphanet_url":"https://www.orpha.net/en/disease/detail/316244","names":{"fr":{"name":"Syndrome de délétion partielle du bras court du chromosome 12","synonyms":["Délétion partielle du chromosome 12p","Monosomie partielle du bras court du chromosome 12","Monosomie partielle du chromosome 12p"]},"de":{"name":"Chromosom 12, partielle Deletion des kurzen Arms","synonyms":["Chromosom 12p-Deletion, partielle","Partielle Monosomie 12p","Partielle Monosomie des kurzen Arms von Chromosom 12"]},"es":{"name":"Síndrome de deleción parcial del brazo corto del cromosoma 12","synonyms":["Deleción parcial del cromosoma 12p","Monosomía parcial del brazo corto del cromosoma 12","Monosomía parcial del cromosoma 12p"]},"it":{"name":"Sindrome delezione parziale del braccio corto del cromosoma 12","synonyms":["Delezione parziale del cromosoma 12p","Monosomia parziale del braccio corto del cromosoma 12","Monosomia parziale del cromosoma 12p"]},"nl":{"name":"Partiële deletie van de korte arm van chromosoom 12-syndroom","synonyms":["Partiële monosomie van chromosoom 12p","Partiële monosomie van de korte arm van chromosoom 12","Partiële deletie van chromosoom 12p"]},"pt":{"name":"Deleção parcial do braço curto do cromossoma 12","synonyms":["Deleção parcial do cromossoma 12p","Monossomia parcial do braço curto do cromossoma 12","Monossomia parcial do cromossoma 12p"]},"pl":{"name":"Zespół częściowej delecji krókiego ramienia chromosomu 12","synonyms":["Częściowa delecja chromosomu 12p","Częściowa monosomia chromosomu 12p","Częściowa monosomia krótkiego ramienia chromosomu 12p"]},"cs":{"name":"Částečná delece krátkého raménka chromozomu 12","synonyms":["Částečná delece chromozomu 12p","Částečná monozomie chromozomu 12p","Částečná monozomie krátkého raménka chromozomu 12"]},"uk":{"name":"Часткова делеція короткого плеча хромосоми 12","synonyms":["Часткова делеція хромосоми 12p","Часткова моносомія хромосоми 12p","Часткова моносомія короткого плеча хромосоми 12"]},"zh":{"name":"12号染色体短臂部分缺失","synonyms":["12号染色体短臂部分单体"]},"tr":{"name":"12. kromozomun kısa kolunun kısmi delesyonu","synonyms":["12p kromozomunun delesyonu","12p kromozomunun kısmi monozomisi","12. kromozomun kısa kolunun kısmi monozomisi"]}},"xrefs":[{"source":"MONDO","code":"0022174","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538302","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931805","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":282124,"name":"Partial deletion of chromosome 12 syndrome","classifications":[147,156]}],"children":[{"orpha":313884,"name":"12p12.1 microdeletion syndrome","type":"Clinical subtype"},{"orpha":280325,"name":"Distal deletion 12p syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}