Rare Disease Library

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"

5 matching diseasesClear search ×

Hyper-IgM syndrome without susceptibility to opportunistic infections

HIGM without susceptibility to opportunistic infections

ORPHA:183666

Genetic susceptibility to infections due to particular pathogens

ORPHA:183710

Hyper-IgM syndrome with susceptibility to opportunistic infections

HIGM with susceptibility to opportunistic infections

ORPHA:183663

Mendelian susceptibility to mycobacterial diseases

Idiopathic infection caused by BCG or atypical mycobacteria · MSMD

ORPHA:748

Susceptibility to infection due to TYK2 deficiency

ORPHA:331226