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 ×

Femur-fibula-ulna complex

FFU complex · Femur-fibula-ulna dysostosis

ORPHA:2019

Dysostosis

ORPHA:364559

Otomandibular syndrome

First branchial arch syndrome · Laterofacial microsomia

ORPHA:141136