{"orpha":699618,"name":"Severe mendelian susceptibility to mycobacterial diseases due to complete IFNG deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Severe MSMD due to complete IFNG deficiency","Severe mendelian susceptibility to mycobacterial diseases due to complete interferon gamma deficiency"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-699618/","orphanet_url":"https://www.orpha.net/en/disease/detail/699618","names":{"fr":{"name":"Sévère prédisposition mendélienne aux infections mycobactériennes par déficit complet en IFNG","synonyms":["SSMIM sévère par déficit complet en IFNG","Syndrome de susceptibilité mendélienne aux infections mycobactériennes sévère par déficit complet en IFNG","Sévère prédisposition mendélienne aux infections mycobactériennes par déficit complet en interféron gamma"]},"de":{"name":"Suszeptibilität für Mykobakteriosen durch kompletten IFNG-Mangel","synonyms":["Mendelsche Anfälligkeit für Krankheiten durch Mykobakterien bei vollständigem Interferon-gamma-Mangel","Schwere MSMD durch vollständige IFNG-Defizienz"]},"es":{"name":"Susceptibilidad mendeliana grave a enfermedades micobacterianas por deficiencia completa de IFNG","synonyms":["SMEM grave por deficiencia completa de IFNG","Susceptibilidad mendeliana grave a enfermedades micobacterianas por deficiencia completa de interferón gamma"]},"it":{"name":"Grave predisposizione mendeliana alle malattie micobatteriche da deficit completo di IFNG","synonyms":["MSMD grave da deficit completo di IFNG","Grave predisposizione mendeliana alle malattie micobatteriche da deficit completo di interferone gamma"]},"nl":{"name":"Ernstige Mendeliaanse gevoeligheid voor mycobacteriële ziekten door volledige IFNG-deficiëntie","synonyms":["Ernstige MSMD door volledige IFNG-deficiëntie","Ernstige Mendeliaanse gevoeligheid voor mycobacteriële ziekten door volledige deficiëntie van interferon gamma"]},"pt":{"name":"Severe mendelian susceptibility to mycobacterial diseases due to complete IFNG deficiency"},"pl":{"name":"Severe mendelian susceptibility to mycobacterial diseases due to complete IFNG deficiency","synonyms":["Severe MSMD due to complete IFNG deficiency","Severe mendelian susceptibility to mycobacterial diseases due to complete interferon gamma deficiency"]},"cs":{"name":"Severe mendelian susceptibility to mycobacterial diseases due to complete IFNG deficiency","synonyms":["Severe MSMD due to complete IFNG deficiency","Severe mendelian susceptibility to mycobacterial diseases due to complete interferon gamma deficiency"]}},"xrefs":[{"source":"OMIM","code":"618963","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D84.8","qualifier":"NTBT","icd_relation":"attributed","validated":false},{"source":"ICD-11","code":"4A00.2","qualifier":"NTBT","icd_relation":"attributed","validated":false}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":319535,"name":"Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency","classifications":[156,195]}],"children":[],"genes":[{"symbol":"IFNG","name":"interferon gamma","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"32163377[PMID]","hgnc":"5438","ensembl":"ENSG00000111537","omim":"147570","loci":["12q15"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"32163377[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"32163377[PMID]_ORPHANET"}],"phenotypes":null}