{"orpha":261884,"name":"Partial deletion of the short arm of chromosome 4 syndrome","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Partial deletion of chromosome 4p","Partial monosomy of chromosome 4p","Partial monosomy of the short arm of chromosome 4"],"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-261884/","orphanet_url":"https://www.orpha.net/en/disease/detail/261884","names":{"fr":{"name":"Syndrome de délétion partielle du bras court du chromosome 4","synonyms":["Délétion partielle du chromosome 4p","Monosomie partielle du bras court du chromosome 4","Monosomie partielle du chromosome 4p"]},"de":{"name":"Chromosom 4p-Deletion, partielle","synonyms":["Chromosom 4, partielle Deletion des kurzen Arms","Partielle Monosomie 4p","Partielle Monosomie des kurzen Arms von Chromosom 4"]},"es":{"name":"Síndrome de deleción parcial del brazo corto del cromosoma 4","synonyms":["Deleción parcial del cromosoma 4p","Monosomía parcial del brazo corto del cromosoma 4","Monosomía parcial del cromosoma 4p"]},"it":{"name":"Sindrome delezione parziale del braccio corto del cromosoma 4","synonyms":["Delezione parziale del cromosoma 4p","Monosomia parziale del braccio corto del cromosoma 4","Monosomia parziale del cromosoma 4p"]},"nl":{"name":"Partiële deletie van de korte arm van chromosoom 4-syndroom","synonyms":["Partiële deletie van chromosoom 4p","Partiële monosomie van chromosoom 4p","Partiële monosomie van de korte arm van chromosoom 4"]},"pt":{"name":"Monossomia parcial do braço curto do cromossoma 4"},"pl":{"name":"Zespół częściowej delecji krótkiego ramienia chromosomu 4","synonyms":["Częściowa delecja chromosomu 4p","Cześciowa monosomia chromosomu 4p","Częściowa monosomia krótkiego ramienia chromosomu 4"]},"cs":{"name":"Parciální delece krátkého raménka chromozomu 4","synonyms":["Parciální delece chromozomu 4p","Parciální monozomie chromozomu 4p","Parciální monozomie krátkého raménka chromozomu 4"]},"uk":{"name":"Часткова делеція короткого плеча хромосоми 4","synonyms":["Часткова делеція хромосоми 4p","Часткова моносомія хромосоми 4p","Часткова моносомія короткого плеча хромосоми 4"]},"zh":{"name":"4号染色体短臂部分缺失","synonyms":["4号染色体短臂部分单体"]},"tr":{"name":"4. kromozomun kısa kolunun kısmi delesyonu","synonyms":["4p kromozomunun kısmi delesyonu","4p kromozomunun kısmi monozomisi","4. kromozomun kısa kolunun kısmi monozomisi"]}},"xrefs":[{"source":"ICD-11","code":"LD44.41","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1460916074"},{"source":"MONDO","code":"0022762","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679665","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":261781,"name":"Partial deletion of chromosome 4 syndrome","classifications":[147,156]}],"children":[{"orpha":280,"name":"Wolf-Hirschhorn syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}