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 ×

Rare maxillo-facial surgical disease

Rare maxillofacial anomaly

ORPHA:68329

Rare chromosomal anomaly

ORPHA:68335

Rare refraction anomaly

ORPHA:98618

Rare vascular anomaly

ORPHA:68419