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"

9 matching diseasesClear search ×

Dravet syndrome

SMEI · Severe myoclonic epilepsy of infancy

ORPHA:33069

Epilepsy of infancy with migrating focal seizures

EIMFS · Malignant migrating partial seizures of infancy

ORPHA:293181

Epilepsy with myoclonic absences

ORPHA:86911

Epilepsy with myoclonic-atonic seizures

Doose syndrome · EMAS

ORPHA:1942

Familial adult myoclonic epilepsy

ADCME · Autosomal dominant cortical myoclonus and epilepsy

ORPHA:86814

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

Progressive myoclonic epilepsy

PME · Progressive myoclonus epilepsy

ORPHA:98261