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 ×

Androgen insensitivity syndrome

AIS · Androgen resistance syndrome

ORPHA:754

Acquired idiopathic sideroblastic anemia

AISA · Primary acquired sideroblastic anemia

ORPHA:75564

Faisalabad histiocytosis

FHC

ORPHA:254707

Gaisböck syndrome

Stress erythrocytosis · Stress polycythemia

ORPHA:90041