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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"
X-linked hyper-IgM syndrome
HIGM1 · Hyper-IgM syndrome due to CD40 ligand deficiency
Hyper-IgM syndrome type 2
AID deficiency · Activation-induced cytidine deaminase deficiency
Hyper-IgM syndrome type 3
HIGM3 · Hyper-IgM syndrome due to CD40 deficiency
Hyper-IgM syndrome type 4
HIGM4
Hyper-IgM syndrome type 5
HIGM5 · Hyper-IgM syndrome due to UNG deficiency