{"orpha":331184,"name":"Syndrome with congenital neutropenia as a major feature","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Syndrome with constitutional neutropenia as a major feature","Syndrome with genetic neutropenia as a major feature"],"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-331184/","orphanet_url":"https://www.orpha.net/en/disease/detail/331184","names":{"fr":{"name":"Syndrome avec neutropénie congénitale comme manifestation majeure","synonyms":["Syndrome avec neutropénie constitutionnelle comme manifestation majeure","Syndrome avec neutropénie génétique comme manifestation majeure"]},"de":{"name":"Syndrom mit kongenitaler Neutropenie als Hauptmerkmal","synonyms":["Syndrom mit genetisch bedingter Neutropenie als Hauptmerkmal","Syndrom mit konstitutioneller Neutropenie als Hauptmerkmal"]},"es":{"name":"Síndrome con neutropenia congénita como característica principal","synonyms":["Síndrome con neutropenia constitucional como característica principal","Síndrome con neutropenia genética como característica principal"]},"it":{"name":"Sindrome con neutropenia congenita come caratteristica principale","synonyms":["Sindrome con neutropenia costituzionale come caratteristica principale","Sindrome con neutropenia genetica come caratteristica principale"]},"nl":{"name":"Syndroom met congenitale neutropenie als hoofdkenmerk","synonyms":["Syndroom met constitutionele neutropenie als hoofdkenmerk","Syndroom met genetische neutropenie als hoofdkenmerk"]},"pt":{"name":"Síndrome de neutropenia congénita como característica principal","synonyms":["Síndrome de neutropenia constitucional como característica principal","Síndrome de neutropenia genética como característica principal"]},"pl":{"name":"Zespół z wrodzoną neutropenią jako główną cechą","synonyms":["Syndrome with constitutional neutropenia as a major feature","Syndrome with genetic neutropenia as a major feature"]},"cs":{"name":"Konstituční neutropenie s extra-hematopoetickými projevy","synonyms":["Syndrome with constitutional neutropenia as a major feature","Syndrome with genetic neutropenia as a major feature"]},"uk":{"name":"Синдром з вродженою нейтропенією як основною ознакою","synonyms":["Синдром з конституціональною нейтропенією як основною ознакою","Синдром з генетичною нейтропенією як основною ознакою"]},"zh":{"name":"体质性中性粒细胞减少症伴造血外表现"},"tr":{"name":"Ekstra hematopoetik belirtiler ile seyreden yapısal nötropeni"}},"xrefs":[{"source":"MONDO","code":"18032","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5925008","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":101987,"name":"Congenital neutropenia","classifications":[156,195,233]}],"children":[{"orpha":445038,"name":"3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome","type":"Disease"},{"orpha":693647,"name":"Agammaglobulinemia-early-onset hypertrophic cardiomyopathy-neutropenia syndrome","type":"Disease"},{"orpha":111,"name":"Barth syndrome","type":"Disease"},{"orpha":193,"name":"Cohen syndrome","type":"Malformation syndrome"},{"orpha":369852,"name":"Congenital neutropenia-myelofibrosis-nephromegaly syndrome","type":"Disease"},{"orpha":79259,"name":"Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib","type":"Clinical subtype"},{"orpha":183678,"name":"Hermansky-Pudlak syndrome due to AP-3 deficiency","type":"Clinical subtype"},{"orpha":2390,"name":"Lichtenstein syndrome","type":"Disease"},{"orpha":2690,"name":"Neutropenia-monocytopenia-deafness syndrome","type":"Disease"},{"orpha":652522,"name":"Periodic fever-immunodeficiency-thrombocytopenia syndrome","type":"Disease"},{"orpha":221046,"name":"Poikiloderma with neutropenia","type":"Disease"},{"orpha":90023,"name":"Primary immunodeficiency syndrome due to P14/LAMTOR2 deficiency","type":"Disease"},{"orpha":169142,"name":"Recurrent infections due to specific granule deficiency","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"},{"orpha":675767,"name":"Severe congenital neutropenia-developmental delay syndrome due to SRP54 deficiency","type":"Disease"},{"orpha":811,"name":"Shwachman-Diamond syndrome","type":"Disease"},{"orpha":675628,"name":"TLR8-related inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}