{"orpha":69088,"name":"Hypohidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["OL-HED-ID"],"definition":"This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-69088/","orphanet_url":"https://www.orpha.net/en/disease/detail/69088","names":{"fr":{"name":"Syndrome de dysplasie ectodermique hypohidrotique-déficit immunitaire-ostéopétrose-lymphoedème","synonyms":["OL-HED-ID","Syndrome d'HED-déficit immunitaire-ostéopétrose-lymphoedème","Syndrome de DEH-déficit immunitaire-ostéopétrose-lymphoedème","Syndrome de dysplasie ectodermique anhidrotique-immunodéficience-ostéopétrose-lymphoedème","Syndrome de dysplasie ectodermique hypohidrotique-immunodéficience-ostéopétrose-lymphoedème"],"definition":"Ce syndrome est caractérisé par une immunodéficience sévère, une ostéopétrose, un lymphoedème et une dysplasie ectodermique anhidrotique."},"de":{"name":"Hypohidrotische ektodermale Dysplasie-Immundefekt-Osteopetrose-Lymphödem-Syndrom","synonyms":["OL-HED-ID"],"definition":"Dieses Syndrom ist charakterisiert durch schwere Immunschwäche, Osteopetrose, Lymphödem und eine anhidrotische ektodermale Dysplasie."},"es":{"name":"Síndrome de displasia ectodérmica hipohidrótica-inmunodeficiencia-osteopetrosis-linfedema","definition":"Este síndrome se caracteriza por: inmunodeficiencia grave, osteopetrosis, linfedema y displasia ectodermal anhídrotica."},"it":{"name":"Sindrome displasia ectodermica anidrotica-immunodeficienza-osteopetrosi-linfedema"},"nl":{"name":"Hypohidrotische ectodermale dysplasie - immuundeficiëntie - osteopetrose - lymfoedeem-syndroom","synonyms":["OL-HED-ID"],"definition":"Een syndroom, gekenmerkt door ernstige immuundeficiëntie, osteopetrose, lymfoedeem, en anhidrotische ectodermale dysplasie."},"pt":{"name":"Síndrome de displasia ectodérmica hipohidrótica-imunodeficiência-osteopetrose-linfedema","synonyms":["OL-HED-ID"],"definition":"Este síndrome é caracterizado por imunodeficiência, osteopetrose, linfedema grave e displasia ectodérmica anidrótica."},"pl":{"name":"Zespół dysplazji ektodermalnej anhydrotycznej, Niedobóru odporności, osteopetrozy i obrzęku limfatycznego","synonyms":["OL-EDA-ID"]},"cs":{"name":"Syndrom zahrnující anhidrotickou ektodermální dysplázii, imunodeficienci, osteopetrózu a lymfedém","synonyms":["OL-EDA-ID"]},"uk":{"name":"Синдром ангідротичної ектодермальної дисплазії-імунодефіциту-остеопетрозу-лімфедеми","synonyms":["OL-EDA-ID"],"definition":"This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia."},"zh":{"name":"无汗性外胚层发育不良-免疫缺陷-骨硬化-淋巴水肿综合征","synonyms":["OL-EDA-ID"]},"tr":{"name":"Anhidrotik ektodermal displazi-immün yetmezlik-osteopetroz-lenfödem sendromu","synonyms":["OL-EDA-ID"]}},"xrefs":[{"source":"OMIM","code":"300291","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q78.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD27.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"273330582"},{"source":"MONDO","code":"0010295","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4303737","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":568047,"name":"Disorder with multisystemic involvement and primary lymphedema","classifications":[147,156,187,198]},{"orpha":79373,"name":"Ectodermal dysplasia syndrome","classifications":[147,156,187]},{"orpha":2781,"name":"Osteopetrosis and related disorders","classifications":[147,156,199,233]},{"orpha":717757,"name":"Rare immune disease with inflammatory bowel disease","classifications":[152,156,233]},{"orpha":331217,"name":"Syndrome with combined immunodeficiency","classifications":[156,195]}],"children":[],"genes":[{"symbol":"IKBKG","name":"inhibitor of nuclear factor kappa B kinase regulatory subunit gamma","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"5961","ensembl":"ENSG00000269335","omim":"300248","loci":["Xq28"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"11242109[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_11242109[PMID]"}],"phenotypes":null}