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"

2 matching diseasesClear search ×

Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation

APLAID

ORPHA:324530

PLCG2-associated antibody deficiency and immune dysregulation

FACU · Familial atypical cold urticaria

ORPHA:300359