{"orpha":718047,"name":"Combined immunodeficiency due to polymerase delta deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CID due to polymerase delta deficiency"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-718047/","orphanet_url":"https://www.orpha.net/en/disease/detail/718047","names":{"fr":{"name":"Déficit immunitaire combiné par déficit en polymérase delta","synonyms":["CID par déficit en polymérase delta","DIC par déficit en polymérase delta"]},"de":{"name":"Kombinierter Immundefekt durch Polymerase-Delta-Mangel","synonyms":["CID durch POLD1-Defizienz","POLD1-Defekt"]},"es":{"name":"Inmunodeficiencia combinada por deficiencia de polimerasa delta","synonyms":["CID por deficiencia de polimerasa delta","IDC por deficiencia de polimerasa delta"]},"it":{"name":"Immunodeficienza combinata da deficit della polimerasi delta","synonyms":["CID da deficit della polimerasi delta"]},"nl":{"name":"Gecombineerde immuundeficiëntie door deficiëntie van polymerase delta","synonyms":["CID door deficiëntie van polymerase delta"]},"pt":{"name":"Combined immunodeficiency due to polymerase delta deficiency"},"pl":{"name":"Combined immunodeficiency due to polymerase delta deficiency","synonyms":["CID due to polymerase delta deficiency"]},"cs":{"name":"Combined immunodeficiency due to polymerase delta deficiency","synonyms":["CID due to polymerase delta deficiency"]}},"xrefs":[{"source":"OMIM","code":"620836","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D81.8","qualifier":"NTBT","icd_relation":"attributed","validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":718053,"name":"Combined immunodeficiency with low CD4 and normal CD8","classifications":[156,195,233]}],"children":[],"genes":[{"symbol":"POLD1","name":"DNA polymerase delta 1, catalytic subunit","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"31449058[PMID]_31629014[PMID]","hgnc":"9175","ensembl":"ENSG00000062822","omim":"174761","loci":["19q13.33"]},{"symbol":"POLD2","name":"DNA polymerase delta 2, accessory subunit","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"31449058[PMID]","hgnc":"9176","ensembl":"ENSG00000106628","omim":"600815","loci":["7p13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}