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"

16 matching diseasesClear search ×

Epilepsy with myoclonic-atonic seizures

Doose syndrome · EMAS

ORPHA:1942

Dravet syndrome

SMEI · Severe myoclonic epilepsy of infancy

ORPHA:33069

Epilepsy and/or ataxia with myoclonus as a major feature

ORPHA:306756

Epilepsy of infancy with migrating focal seizures

EIMFS · Malignant migrating partial seizures of infancy

ORPHA:293181

Epilepsy with eyelid myoclonia

EMA · EMEA

ORPHA:139431

Epilepsy with generalized tonic-clonic seizures alone

Epilepsy with grand mal seizures on awakening · GTCA

ORPHA:698005

Epilepsy with myoclonic absences

ORPHA:86911

Epilepsy with reading-induced seizures

EwRIS

ORPHA:166433

Familial adult myoclonic epilepsy

ADCME · Autosomal dominant cortical myoclonus and epilepsy

ORPHA:86814

Genetic epilepsy with febrile seizure plus

GEFS+ · Generalized epilepsy with febrile seizures plus

ORPHA:36387

Juvenile myoclonic epilepsy

JME · Juvenile myoclonus epilepsy

ORPHA:307

MERRF

Fukuhara syndrome · Myoclonus epilepsy associated with ragged-red fibres

ORPHA:551

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

Progressive myoclonic epilepsy with dystonia

PMED · Progressive myoclonus epilepsy with dystonia

ORPHA:352596

Self-limited epilepsy with autonomic seizures

Benign childhood occipital epilepsy, Panayiotopoulos type · SeLEAS

ORPHA:98815