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"

8 matching diseasesClear search ×

Epilepsy with myoclonic-atonic seizures

Doose syndrome · EMAS

ORPHA:1942

Childhood absence epilepsy

Pyknolepsy

ORPHA:64280

Dravet syndrome

SMEI · Severe myoclonic epilepsy of infancy

ORPHA:33069

Epilepsy with myoclonic absences

ORPHA:86911

Familial infantile myoclonic epilepsy

FIME · Familial infantile myoclonus epilepsy

ORPHA:352582

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

Self-limited epilepsy with autonomic seizures

Benign childhood occipital epilepsy, Panayiotopoulos type · SeLEAS

ORPHA:98815