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 ×

Bangstad syndrome

Ataxia-diabetes-goiter-gonadal insufficiency syndrome

ORPHA:1227

Triple A syndrome

2A syndrome · 3A syndrome

ORPHA:869