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"

6 matching diseasesClear search ×

Pediatric arterial ischemic stroke

Childhood AIS · Childhood arterial ischemic stroke

ORPHA:439175

Childhood absence epilepsy

Pyknolepsy

ORPHA:64280

Cystadenoma of childhood

Cystadenoma of ovary in childhood

ORPHA:206470

Interstitial lung disease in childhood and adulthood

ILD in childhood and adulthood

ORPHA:264757

Juvenile myasthenia gravis

Childhood myasthenia gravis · Generalized myasthenia gravis

ORPHA:391497

Pediatric hepatocellular carcinoma

Childhood-onset HCC · Childhood-onset hepatocellular carcinoma

ORPHA:33402