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 ×

Familial hyperinsulinism

FHI · Familial hyperinsulinemic hypoglycemia

ORPHA:276525

Fuchs heterochromic iridocyclitis

FHI

ORPHA:263479

Familial hyperaldosteronism

FH

ORPHA:235936