{"orpha":261938,"name":"Partial deletion of the short arm of chromosome 10 syndrome","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Partial deletion of chromosome 10p","Partial monosomy of chromosome 10p","Partial monosomy of the short arm of chromosome 10"],"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-261938/","orphanet_url":"https://www.orpha.net/en/disease/detail/261938","names":{"fr":{"name":"Syndrome de délétion partielle du bras court du chromosome 10","synonyms":["Délétion partielle du chromosome 10p","Monosomie partielle du bras court du chromosome 10","Monosomie partielle du chromosome 10p"]},"de":{"name":"Chromosom 10p-Deletion, partielle","synonyms":["Chromosom 10, partielle Deletion des kurzen Arms","Partielle Monosomie 10p","Partielle Monosomie des kurzen Arms von Chromosom 10"]},"es":{"name":"Síndrome de deleción parcial del brazo corto del cromosoma 10","synonyms":["Deleción parcial del cromosoma 10p","Monosomía parcial del brazo corto del cromosoma 10","Monosomía parcial del cromosoma 10p"]},"it":{"name":"Sindrome delezione parziale del braccio corto del cromosoma 10","synonyms":["Delezione parziale del cromosoma 10p","Monosomia parziale del braccio corto del cromosoma 10","Monosomia parziale del cromosoma 10p"]},"nl":{"name":"Partiële deletie van de korte arm van chromosoom 10-syndroom","synonyms":["Partiële deletie van chromosoom 10p","Partiële monosomie van chromosoom 10p","Partiële monosomie van de korte arm van chromosoom 10"]},"pt":{"name":"Monossomia parcial do braço curto do cromossoma 10"},"pl":{"name":"Zespół częściowej delecji krótkiego ramienia chromosomu 10","synonyms":["Częściowa delecja chromosomu 10p","Cześciowa monosomia chromosomu 10p","Częściowa monosomia krótkiego ramienia chromosomu 10"]},"cs":{"name":"Parciální delece krátkého raménka chromozomu 10","synonyms":["Parciální delece chromozomu 10p","Parciální monozomie chromozomu 10p","Parciální monozomie krátkého raménka chromozomu 10"]},"uk":{"name":"Часткова делеція короткого плеча хромосоми 10","synonyms":["Часткова делеція хромосоми 10p","Часткова моносомія хромосоми 10p","Часткова моносомія короткого плеча хромосоми 10"]},"zh":{"name":"10号染色体短臂部分缺失","synonyms":["10号染色体短臂部分三体"]},"tr":{"name":"10. kromozomun kısa kolunun kısmi delesyonu","synonyms":["10p kromozomunun kısmi delesyonu","10p kromozomunun kısmi monozomisi","10. kromozomun kısa kolunun kısmi monozomisi"]}},"xrefs":[{"source":"ICD-11","code":"LD44.A1","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"350543001"},{"source":"MONDO","code":"0016892","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16892","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538288","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0795836","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":261811,"name":"Partial deletion of chromosome 10 syndrome","classifications":[147,156]}],"children":[{"orpha":1580,"name":"Distal deletion 10p syndrome","type":"Clinical group"},{"orpha":284169,"name":"Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion","type":"Clinical subtype"},{"orpha":2237,"name":"Hypoparathyroidism-sensorineural deafness-renal disease syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}