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"

4 matching diseasesClear search ×

Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency

ALPS due to CTLA4 haploinsuffiency · CHAI

ORPHA:436159

Combined immunodeficiency due to FOXN1 haploinsufficiency

ORPHA:676039

Combined immunodeficiency due to RELA haploinsufficiency

RELA-associated inflammatory disease · CID due to RELA haploinsufficiency

ORPHA:596759

Immune dysregulation-inflammatory bowel disease- recurrent sinopulmonary infections syndrome

NFAT5 haploinsufficiency

ORPHA:529980