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"

3 matching diseasesClear search ×

Fetal anticonvulsant syndrome

FACS · Fetal AEDS

ORPHA:370068

F12-associated cold autoinflammatory syndrome

FACAS

ORPHA:617919

PLCG2-associated antibody deficiency and immune dysregulation

FACU · Familial atypical cold urticaria

ORPHA:300359