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"

17 matching diseasesClear search ×

Self-limited infantile epilepsy

BFIE · BFIS

ORPHA:306

Amish infantile epilepsy syndrome

Infantile-onset symptomatic epilepsy syndrome-developmental stagnation-blindness syndrome

ORPHA:171714

Benign hereditary chorea

BHC · Benign familial chorea

ORPHA:1429

Benign non-familial infantile seizures

ORPHA:166295

Benign partial infantile seizures

ORPHA:166311

Familial adult myoclonic epilepsy

ADCME · Autosomal dominant cortical myoclonus and epilepsy

ORPHA:86814

Familial focal epilepsy with variable foci

FFEVF · Familial partial epilepsy with variable foci

ORPHA:98820

Familial infantile bilateral striatal necrosis

Familial IBSN · Familial infantile striatonigral degeneration

ORPHA:225154

Familial infantile myoclonic epilepsy

FIME · Familial infantile myoclonus epilepsy

ORPHA:352582

Familial partial epilepsy

ORPHA:309

Familial temporal lobe epilepsy

ORPHA:98819

Myoclonic epilepsy of infancy

Benign myoclonus epilepsy of infancy · Benign myoclonic epilepsy of infancy

ORPHA:86909

Self-limited childhood occipital epilepsy

Benign occipital epilepsy

ORPHA:25968

Self-limited epilepsy with centrotemporal spikes

BRE · Benign epilepsy of childhood with centrotemporal spikes

ORPHA:1945

Self-limited neonatal epilepsy

BFNS · Benign familial neonatal convulsions

ORPHA:1949

Self-limited neonatal-infantile epilepsy

SeLFNIE · Benign familial neonatal-infantile seizures

ORPHA:140927

X-linked acrogigantism

Hereditary infantile gigantism · Hereditary pituitary hyperplasia

ORPHA:300373