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"

5 matching diseasesClear search ×

Epilepsy with generalized tonic-clonic seizures alone

Epilepsy with grand mal seizures on awakening · GTCA

ORPHA:698005

Epilepsy of infancy with migrating focal seizures

EIMFS · Malignant migrating partial seizures of infancy

ORPHA:293181

Epilepsy with myoclonic-atonic seizures

Doose syndrome · EMAS

ORPHA:1942

Epilepsy with reading-induced seizures

EwRIS

ORPHA:166433

Self-limited epilepsy with autonomic seizures

Benign childhood occipital epilepsy, Panayiotopoulos type · SeLEAS

ORPHA:98815