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Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.
Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"
Combined immunodeficiency due to dimerization defective IKAROS mutation
Combined immunodeficiency due to dimerization defective IKZF1 mutation · CID due to IKAROS dimerization defective mutation
Combined immunodeficiency due to IKBKB gain-of-function mutation
CID due to IKBKB GOF mutation · Combined immunodeficiency due to inhibitor of nuclear factor kappa B kinase subunit beta gain-of-function mutation
Early-onset combined immunodeficiency with low Ig due to dominant negative IKAROS mutation
Early-onset CID with low Ig due to dominant-negative IKAROS mutation · Early-onset CID with low Ig due to dominant-negative IKZF1 mutation