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"

10 matching diseasesClear search ×

Familial adult myoclonic epilepsy

ADCME · Autosomal dominant cortical myoclonus and epilepsy

ORPHA:86814

Epilepsy with myoclonic-atonic seizures

Doose syndrome · EMAS

ORPHA:1942

Familial cortical myoclonus

ORPHA:319189

Familial infantile myoclonic epilepsy

FIME · Familial infantile myoclonus epilepsy

ORPHA:352582

Familial partial epilepsy

ORPHA:309

Juvenile myoclonic epilepsy

JME · Juvenile myoclonus epilepsy

ORPHA:307

Myoclonic epilepsy of infancy

Benign myoclonus epilepsy of infancy · Benign myoclonic epilepsy of infancy

ORPHA:86909

Progressive myoclonic epilepsy

PME · Progressive myoclonus epilepsy

ORPHA:98261

Self-limited infantile epilepsy

BFIE · BFIS

ORPHA:306

Self-limited neonatal epilepsy

BFNS · Benign familial neonatal convulsions

ORPHA:1949