{"orpha":696894,"name":"Common variable immunodeficiency phenotype due to CD21 deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CVID phenotype due to CD21 deficiency","Common variable immunodeficiency phenotype due to cluster of differentiation 21 deficiency"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-696894/","orphanet_url":"https://www.orpha.net/en/disease/detail/696894","names":{"fr":{"name":"Phénotype de déficit immunitaire commun variable par déficit en CD21","synonyms":["Phénotype d'immunodéficience commune variable par déficit en CD21","Phénotype de CVID par déficit en CD21","Phénotype de DICV par déficit en CD21","Phénotype de déficit immunitaire commun variable par déficit en protéine cluster of differentiation 21"]},"de":{"name":"Variables Immundefekt-Syndrom durch CD21-Mangel","synonyms":["CVID durch CD21-Defizienz"]},"es":{"name":"Fenotipo de inmunodeficiencia común variable por deficiencia de CD21","synonyms":["Fenotipo de IDCV por deficiencia de CD21","Fenotipo de inmunodeficiencia común variable por deficiencia del grupo de diferenciación 21"]},"it":{"name":"Fenotipo dell’immunodeficienza comune variabile da deficit di CD21","synonyms":["Fenotipo della CVID da deficit di CD21","Fenotipo dell’immunodeficienza comune variabile da deficit del cluster di differenziazione 21"]},"nl":{"name":"Fenotype van gewone variabele immuundeficiëntie door CD21-deficiëntie","synonyms":["CVID-fenotype door CD21-deficiëntie","Fenotype van gewone variabele immuundeficiëntie door deficiëntie van cluster van differentiatie 21"]},"pt":{"name":"Common variable immunodeficiency phenotype due to CD21 deficiency"},"pl":{"name":"Common variable immunodeficiency phenotype due to CD21 deficiency","synonyms":["CVID phenotype due to CD21 deficiency","Common variable immunodeficiency phenotype due to cluster of differentiation 21 deficiency"]},"cs":{"name":"Common variable immunodeficiency phenotype due to CD21 deficiency","synonyms":["CVID phenotype due to CD21 deficiency","Common variable immunodeficiency phenotype due to cluster of differentiation 21 deficiency"]}},"xrefs":[{"source":"OMIM","code":"614699","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":696870,"name":"Common variable immunodeficiency phenotype due to germinal monogenic mutation","classifications":[156,195]}],"children":[],"genes":[{"symbol":"CR2","name":"complement C3d receptor 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"38817346[PMID]_22035880[PMID]","hgnc":"2336","ensembl":"ENSG00000117322","omim":"120650","loci":["1q32.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}