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"

4 matching diseasesClear search ×

Adams-Oliver syndrome

AOS · Congenital scalp defects with distal limb anomalies

ORPHA:974

Genetic syndrome with limb reduction defects

ORPHA:404574

Structural heart defects-renal anomalies syndrome

Severe congenital heart defects-renal anomalies syndome · SHDRA syndrome

ORPHA:689822

Syndrome with limb reduction defects

ORPHA:294955