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 ×

Familial adult myoclonic epilepsy

ADCME · Autosomal dominant cortical myoclonus and epilepsy

ORPHA:86814

Autosomal dominant cerebellar ataxia

ADCA · Autosomal dominant spinocerebellar ataxia

ORPHA:99

Autosomal dominant cutis laxa

ADCL

ORPHA:90348