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"

6 matching diseasesClear search ×

Pycnodysostosis

Pyknodysostosis

ORPHA:763

Acrodysostosis

Acrodysplasia · Arkless-Graham syndrome

ORPHA:950

Dysostosis

ORPHA:364559

Nager syndrome

Mandibulofacial dysostosis with preaxial limb anomalies · NAFD

ORPHA:245

Patellar dysostosis

ORPHA:93455

Postaxial acrofacial dysostosis

Miller syndrome · POADS

ORPHA:246