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 ×

Rare epilepsy

ORPHA:101998

Reflex epilepsy

ORPHA:310

Sleep-related hypermotor epilepsy

ADNFLE · Autosomal dominant sleep-related hypermotor epilepsy

ORPHA:98784