{"orpha":439849,"name":"Autosomal recessive severe congenital neutropenia","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"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-439849/","orphanet_url":"https://www.orpha.net/en/disease/detail/439849","names":{"fr":{"name":"Neutropénie congénitale sévère autosomique récessive"},"de":{"name":"Neutropenie, kongenitale schwere, autosomal-rezessive"},"es":{"name":"Neutropenia congénita grave autosómica recesiva"},"it":{"name":"Neutropenia congenita grave autosomica recessiva"},"nl":{"name":"Autosomaal recessieve ernstige congenitale neutropenie"},"pt":{"name":"Neutropenia congénita grave autossómica recessiva"},"pl":{"name":"Autosomalna recesywna ciężka wrodzona neutropenia"},"cs":{"name":"Autozomálně recesivní těžká vrozená neutropenie"},"uk":{"name":"Аутосомно-рецесивна тяжка вроджена нейтропенія"},"zh":{"name":"常染色体隐性遗传性严重先天性中性粒细胞减少"},"tr":{"name":"Otozomal resesif ağır doğumsal nötropeni"}},"xrefs":[{"source":"MONDO","code":"0028226","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5447331","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":42738,"name":"Severe congenital neutropenia","classifications":[156,195,233]}],"children":[{"orpha":420702,"name":"Autosomal recessive severe congenital neutropenia due to CSF3R deficiency","type":"Disease"},{"orpha":420699,"name":"Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency","type":"Disease"},{"orpha":99749,"name":"Kostmann syndrome","type":"Disease"},{"orpha":331176,"name":"Severe congenital neutropenia due to G6PC3 deficiency","type":"Disease"},{"orpha":423384,"name":"Severe congenital neutropenia due to JAGN1 deficiency","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}