{"orpha":261911,"name":"Partial deletion of the short arm of chromosome 7 syndrome","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Partial deletion of chromosome 7p","Partial monosomy of chromosome 7p","Partial monosomy of the short arm of chromosome 7"],"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-261911/","orphanet_url":"https://www.orpha.net/en/disease/detail/261911","names":{"fr":{"name":"Syndrome de délétion partielle du bras court du chromosome 7","synonyms":["Délétion partielle du chromosome 7p","Monosomie partielle du bras court du chromosome 7","Monosomie partielle du chromosome 7p"]},"de":{"name":"Chromosom 7p-Deletion, partielle","synonyms":["Chromosom 7, partielle Deletion des kurzen Arms","Partielle Monosomie 7p","Partielle Monosomie des kurzen Arms von Chromosom 7"]},"es":{"name":"Síndrome de deleción parcial del brazo corto del cromosoma 7","synonyms":["Deleción parcial del cromosoma 7p","Monosomía parcial del brazo corto del cromosoma 7","Monosomía parcial del cromosoma 7p"]},"it":{"name":"Sindrome delezione parziale del braccio corto del cromosoma 7","synonyms":["Delezione parziale del cromosoma 7p","Monosomia parziale del braccio corto del cromosoma 7","Monosomia parziale del cromosoma 7p"]},"nl":{"name":"Partiële deletie van de korte arm van chromosoom 7-syndroom","synonyms":["Partiële deletie van chromosoom 7p","Partiële monosomie van chromosoom 7p","Partiële monosomie van de korte arm van chromosoom 7"]},"pt":{"name":"Monossomia parcial do braço curto do cromossoma 7"},"pl":{"name":"Zespół częściowej delecji krótkiego ramienia chromosomu 7","synonyms":["Częściowa delecja chromosomu 7p","Cześciowa monosomia chromosomu 7p","Częściowa monosomia krótkiego ramienia chromosomu 7"]},"cs":{"name":"Parciální delece krátkého raménka chromozomu 7","synonyms":["Parciální delece chromozomu 7p","Parciální monozomie chromozomu 7p","Parciální monozomie krátkého raménka chromozomu 7"]},"uk":{"name":"Часткова делеція короткого плеча хромосоми 7","synonyms":["Часткова делеція хромосоми 7p","Часткова моносомія хромосоми 7p","Часткова моносомія короткого плеча хромосоми 7"]},"zh":{"name":"7号染色体短臂部分缺失","synonyms":["7号染色体短臂部分单体"]},"tr":{"name":"7. kromozomun kısa kolunun kısmi delesyonu","synonyms":["7p kromozomunun kısmi delesyonu","7p kromozomunun kısmi monozomisi","7. kromozomun kısa kolunun kısmi monozomisi"]}},"xrefs":[{"source":"ICD-11","code":"LD44.71","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1523142467"},{"source":"MONDO","code":"0016889","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16889","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679668","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":96136,"name":"OBSOLETE: Non-distal monosomy 7p","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":261796,"name":"Partial deletion of chromosome 7 syndrome","classifications":[147,156]}],"children":[{"orpha":96126,"name":"Distal deletion 7p syndrome","type":"Malformation syndrome"},{"orpha":658805,"name":"Greig cephalopolysyndactyly-contiguous gene syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal"],"prevalence":[],"phenotypes":null}