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 ×

Autoimmune hemolytic anemia, cold type

Cold AIHA · cAHA

ORPHA:228312

CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome

CAIN

ORPHA:566067

Complete androgen insensitivity syndrome

CAIS · Complete androgen resistance syndrome

ORPHA:99429