{"orpha":675628,"name":"TLR8-related inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["INFLTR8","Toll-like receptor 8-associated inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-675628/","orphanet_url":"https://www.orpha.net/en/disease/detail/675628","names":{"fr":{"name":"Syndrome d'inflammation-neutropénie sévère-insuffisance médullaire-lymphoprolifération associé à TLR8","synonyms":["Syndrome d'inflammation-neutropénie sévère-insuffisance médullaire-lymphoprolifération associé à Toll-like receptor 8"]},"de":{"name":"TLR8-assoziierte Inflammation-schwere Neutropenie-Knochenmarkversagen-lymphoproliferatives Syndrom","synonyms":["INFLTR8","Toll-like-Rezeptor 8-assoziierte Entzündung-schwere Neutropenie-Knochenmarkversagen-lymphoproliferatives Syndrom"]},"es":{"name":"Síndrome de inflamación-neutropenia grave-insuficiencia medular-linfoproliferación asociado a TLR8","synonyms":["INFLTR8","Síndrome de inflamación-neutropenia grave-insuficiencia medular-linfoproliferación asociada al receptor 8 tipo toll"]},"it":{"name":"Sindrome infiammazione-neutropenia grave-insufficienza midollare-linfoproliferazione correlata a TLR8","synonyms":["INFLTR8","Sindrome infiammazione-neutropenia grave-insufficienza midollare-linfoproliferazione associata al recettore 8 toll-like","Sindrome infiammazione-neutropenia grave-insufficienza midollare-linfoproliferazione correlata al recettore toll-like 8"]},"nl":{"name":"TLR8-gerelateerd inflammatie - ernstige neutropenie - beenmergfalen - lymfoproliferatie-syndroom","synonyms":["INFLTR8","Toll-like receptor 8-geassocieerd inflammatie - ernstige neutropenie - beenmergfalen - lymfoproliferatie-syndroom"]},"pt":{"name":"Síndrome de inflamação TLR8-relacionada-neutropenia grave-falência da medula óssea-linfoproliferação","synonyms":["INFLTR8","Síndrome de inflamação associada a recetor 8 toll-like-neutropenia grave-falência da medula óssea-linfoproliferação"]},"pl":{"name":"Zapalenie związane z TLR8 – ciężka neutropenia – niewydolność szpiku kostnego – zespół limfoproliferacji","synonyms":["Zespół zapalenia związanego z TLR8 – ciężkiej neutropenii – niewydolności szpiku kostnego – limfoproliferacji"]},"cs":{"name":"TLR8 asociovaný syndrom zahrnující zánět, těžkou neutropenii, selhání kostní dřeně a lymfoproliferaci","synonyms":["INFLTR8","Toll-like receptor 8-associated inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome"]},"uk":{"name":"TLR8-повязаний синдром запалення-тяжкої нейтропенії-недостатності кісткового мозку- лімфопроліферації","synonyms":["INFLTR8","Toll-подібний рецептор 8-асоційоване запалення-тяжка нейтропенія-відмова кісткового мозку-лімфопроліферативний синдром"]}},"xrefs":[{"source":"OMIM","code":"301078","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"0024777","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"24777","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5676883","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":98290,"name":"Immunodeficiency-associated lymphoproliferative disease","classifications":[194,202,233]},{"orpha":331184,"name":"Syndrome with congenital neutropenia as a major feature","classifications":[156,195,233]}],"children":[],"genes":[{"symbol":"TLR8","name":"toll like receptor 8","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"33512449[PMID]","hgnc":"15632","ensembl":"ENSG00000101916","omim":"300366","loci":["Xp22.2"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":[],"prevalence":[],"phenotypes":null}