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"

21 matching diseasesClear search ×

Juvenile myoclonic epilepsy

JME · Juvenile myoclonus epilepsy

ORPHA:307

Action myoclonus-renal failure syndrome

AMRF · Progressive myoclonus epilepsy type 4

ORPHA:163696

Dravet syndrome

SMEI · Severe myoclonic epilepsy of infancy

ORPHA:33069

Epilepsy with eyelid myoclonia

EMA · EMEA

ORPHA:139431

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 absence epilepsy

JAE

ORPHA:1941

Lafora disease

EPM2 · PME type 2

ORPHA:501

Myoclonic epilepsy of infancy

Benign myoclonus epilepsy of infancy · Benign myoclonic epilepsy of infancy

ORPHA:86909

PRDM8-related progressive myoclonus epilepsy

Early-onset Lafora body disease

ORPHA:324290

Progressive myoclonic epilepsy

PME · Progressive myoclonus epilepsy

ORPHA:98261

Progressive myoclonic epilepsy type 1

Unverricht-Lundborg disease · EPM1

ORPHA:308

Progressive myoclonic epilepsy type 3

EPM3 · PME type 3

ORPHA:263516

Progressive myoclonic epilepsy type 5

EPM5 · PME type 5

ORPHA:402082

Progressive myoclonic epilepsy type 6

EPM6 · GOSR2-related progressive myoclonus ataxia

ORPHA:280620

Progressive myoclonic epilepsy type 7

EPM7 · MEAK

ORPHA:435438

Progressive myoclonic epilepsy type 8

EPM8 · PME type 8

ORPHA:424027

Progressive myoclonic epilepsy type 9

EPM9 · PME type 9

ORPHA:457265

Progressive myoclonic epilepsy with dystonia

PMED · Progressive myoclonus epilepsy with dystonia

ORPHA:352596