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"

7 matching diseasesClear search ×

MERRF

Fukuhara syndrome · Myoclonus epilepsy associated with ragged-red fibres

ORPHA:551

Epilepsy and/or ataxia with myoclonus as a major feature

ORPHA:306756

Epilepsy with eyelid myoclonia

EMA · EMEA

ORPHA:139431

Epilepsy with myoclonic absences

ORPHA:86911

Epilepsy with myoclonic-atonic seizures

Doose syndrome · EMAS

ORPHA:1942

PRDM8-related progressive myoclonus epilepsy

Early-onset Lafora body disease

ORPHA:324290

Progressive myoclonic epilepsy with dystonia

PMED · Progressive myoclonus epilepsy with dystonia

ORPHA:352596