{"orpha":699605,"name":"NEMO deleted exon 5 autoinflammatory syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["NDAS","NEMO-NDAS","NF-kappa-B essential modulator deleted exon 5 autoinflammatory syndrome","SAID due to NEMO exon 5 deletion","Systemic autoinflammatory disease due to NEMO exon 5 deletion"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-699605/","orphanet_url":"https://www.orpha.net/en/disease/detail/699605","names":{"fr":{"name":"Syndrome autoinflammatoire par délétion de l'exon 5 de NEMO","synonyms":["NDAS","NEMO-NDAS","Syndrome autoinflammatoire par délétion de l'exon 5 de la protéine NF-kappa-B essential modulator"]},"de":{"name":"Autoinflammatorisches Syndrom mit assoziierter Exon 5-Deletion in NEMO","synonyms":["NDAS","NEMO-NDAS","SAID durch Exon 5-Deletion des NEMO-Gens","Systemische autoinflammatorische Krankheit durch Exon 5-Deletion im NEMO-Gen"]},"es":{"name":"Síndrome autoinflamatorio por deleción del exón 5 de NEMO","synonyms":["EAI sistémica por deleción del exón 5 de NEMO","Enfermedad autoinflamatoria sistémica por deleción del exón 5 de NEMO","NDAS","NEMO-NDAS","Síndrome autoinflamatorio por deleción del exón 5 del modulador esencial de NF-kappa-B"]},"it":{"name":"Sindrome autoinfiammatoria da delezione dell'esone 5 di NEMO","synonyms":["NDAS","NEMO-NDAS","Sindrome autoinfiammatoria da delezione dell'esone 5 del modulatore essenziale di NF-kappa-B","SAID da delezione dell'esone 5 di NEMO","Malattia autoinfiammatoria sistemica da delezione dell'esone 5 di NEMO"]},"nl":{"name":"Auto-inflammatoir syndroom door deletie van exon 5 van NEMO","synonyms":["Auto-inflammatoir syndroom door deletie van exon 5 van NF-kappa-B essentiële modulator","NDAS","NEMO-NDAS","SAID door deletie van exon 5 van NEMO","Systemische auto-inflammatoire ziekte door deletie van exon 5 van NEMO"]},"pt":{"name":"NEMO deleted exon 5 autoinflammatory syndrome"},"pl":{"name":"NEMO deleted exon 5 autoinflammatory syndrome","synonyms":["NDAS","NEMO-NDAS","NF-kappa-B essential modulator deleted exon 5 autoinflammatory syndrome","SAID due to NEMO exon 5 deletion","Systemic autoinflammatory disease due to NEMO exon 5 deletion"]},"cs":{"name":"NEMO deleted exon 5 autoinflammatory syndrome","synonyms":["NDAS","NEMO-NDAS","NF-kappa-B essential modulator deleted exon 5 autoinflammatory syndrome","SAID due to NEMO exon 5 deletion","Systemic autoinflammatory disease due to NEMO exon 5 deletion"]}},"xrefs":[{"source":"OMIM","code":"301081","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":717871,"name":"Rare systemic or rheumatologic disease with inflammatory bowel disease","classifications":[152,156,233]},{"orpha":477647,"name":"Type 1 interferonopathy","classifications":[156,196]},{"orpha":481671,"name":"Type 1 interferonopathy of childhood","classifications":[231]}],"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":"31874111[PMID]_35289316[PMID]","hgnc":"5961","ensembl":"ENSG00000269335","omim":"300248","loci":["Xq28"]}],"genes_via_subtypes":[],"inheritance":["X-linked dominant","X-linked recessive"],"onset":["Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":30.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}