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 ×

Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection

Primary immunodeficiency with post-MMR vaccine viral infection

ORPHA:431166

Mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency

MSMD due to complete RORgamma receptor defiency · Primary immunodeficiency due to RORC mutation

ORPHA:477857

Primary immunodeficiency

ORPHA:101997

Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency

Primary immunodeficiency due to MCM4 deficiency

ORPHA:75391

Primary immunodeficiency with predisposition to severe viral infection

ORPHA:431156