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"

3 matching diseasesClear search ×

Amish infantile epilepsy syndrome

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

ORPHA:171714

DEND syndrome

Developmental delay-epilepsy-neonatal diabetes syndrome

ORPHA:79134

Neonatal-infantile onset epilepsy syndrome

ORPHA:693802