{"orpha":261965,"name":"Partial deletion of the short arm of chromosome 17 syndrome","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Partial deletion of chromosome 17p","Partial monosomy of chromosome 17p","Partial monosomy of the short arm of chromosome 17"],"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-261965/","orphanet_url":"https://www.orpha.net/en/disease/detail/261965","names":{"fr":{"name":"Syndrome de délétion partielle du bras court du chromosome 17","synonyms":["Délétion partielle du chromosome 17p","Monosomie partielle du bras court du chromosome 17","Monosomie partielle du chromosome 17p"]},"de":{"name":"Partielle Deletion des kurzen Arms von Chromosom 17","synonyms":["Chromosom 17, partielle Deletion des kurzen Arms","Chromosom 17p-Deletion, partielle","Partielle Monosomie 17p","Partielle Monosomie des kurzen Arms von Chromosom 17"]},"es":{"name":"Síndrome de deleción parcial del brazo corto del cromosoma 17","synonyms":["Deleción parcial del cromosoma 17p","Monosomía parcial del brazo corto del cromosoma 17","Monosomía parcial del cromosoma 17p"]},"it":{"name":"Sindrome delezione parziale del braccio corto del cromosoma 17","synonyms":["Monosomia parziale del braccio corto del cromosoma 17","Delezione parziale del cromosoma 17p","Monosomia parziale del cromosoma 17p"]},"nl":{"name":"Partiële deletie van de korte arm van chromosoom 17-syndroom","synonyms":["Partiële deletie van chromosoom 17p","Partiële monosomie van chromosoom 17p","Partiële monosomie van de korte arm van chromosoom 17"]},"pt":{"name":"Deleção parcial do braço curto do cromossoma 17","synonyms":["Deleção parcial do cromossoma 17","Monossomia parcial do braço curto do cromossoma 17","Monossomia parcial do cromossoma 17"]},"pl":{"name":"Zespół częściowej delecji krótkiego ramienia chromosomu 17","synonyms":["Częściowa delecja chromosomu 17p","Częściowa delecja krótkiego ramienia chromosomu 17","Cześciowa monosomia chromosomu 17p"]},"cs":{"name":"Parciální monozomie krátkého raménka chromozomu 17","synonyms":["Parciální delece chromozomu 17p","Parciální delece krátkého raménka chromozomu 17","Parciální monozomie chromozomu 17p"]},"uk":{"name":"Часткова делеція короткого плеча хромосоми 17","synonyms":["Часткова делеція хромосоми 17p","Часткова моносомія хромосоми 17p","Часткова моносомія короткого плеча хромосоми 17"]},"zh":{"name":"17号染色体短臂部分单体","synonyms":["17号染色体短臂部分单体"]},"tr":{"name":"17. kromozomun kısa kolunun kısmi monozomisi","synonyms":["17p kromozomunun kısmi delesyonu","17p kromozomunun kısmi monozomisi","17. kromozomun kısa kolunun kısmi delesyonu"]}},"xrefs":[{"source":"ICD-11","code":"LD44.H1","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"527787991"},{"source":"MONDO","code":"0022754","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679671","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":261831,"name":"Partial deletion of chromosome 17 syndrome","classifications":[147,156]}],"children":[{"orpha":319171,"name":"Distal 17p13.1 microdeletion syndrome","type":"Malformation syndrome"},{"orpha":261257,"name":"Distal 17p13.3 microdeletion syndrome","type":"Malformation syndrome"},{"orpha":640,"name":"Hereditary neuropathy with liability to pressure palsies","type":"Malformation syndrome"},{"orpha":531,"name":"Miller-Dieker syndrome","type":"Malformation syndrome"},{"orpha":819,"name":"Smith-Magenis syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}