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 ×

Poland syndrome

Poland anomaly · Poland sequence

ORPHA:2911

22q11.2 deletion syndrome

22q11DS · CATCH 22

ORPHA:567

Amniotic band syndrome

Congenital constriction ring syndrome · Congenital ring constrictions

ORPHA:295000