{"orpha":169110,"name":"Immunoglobulin heavy chain deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-169110/","orphanet_url":"https://www.orpha.net/en/disease/detail/169110","names":{"fr":{"name":"Déficit en chaîne lourde des immunoglobulines"},"de":{"name":"Defekt der schweren Immunglobulinkette"},"es":{"name":"Deficiencia de cadenas pesadas de inmunoglobulinas"},"it":{"name":"Deficit della catena pesante dell'immunoglobulina"},"nl":{"name":"Deficiëntie van zware keten van immunoglobuline"},"pt":{"name":"Deficiência de cadeias pesadas da imunoglobulina"},"pl":{"name":"Niedobór łańcuchów ciężkich immunoglobulin"},"cs":{"name":"Deficit těžkého řetězce imunoglobulinu"},"uk":{"name":"Дефіцит важкого ланцюга імуноглобуліну"},"zh":{"name":"免疫球蛋白重链缺陷"},"tr":{"name":"İmmünoglobulin ağır zincir eksikliği"}},"xrefs":[{"source":"ICD-10","code":"D80.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A01.04","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"960006636"},{"source":"MONDO","code":"0015697","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0398692","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":331232,"name":"Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells","classifications":[156,195]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}