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 ×

Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome

EMARDD

ORPHA:439212

Epilepsy with eyelid myoclonia

EMA · EMEA

ORPHA:139431