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 ×

Microlissencephaly-micromelia syndrome

Basel-Vanagaite-Sirota syndrome

ORPHA:50810

Basel-Vanagaite-Smirin-Yosef syndrome

ORPHA:464738

Biliary atresia with splenic malformation syndrome

BASM syndrome

ORPHA:244283