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"

9 matching diseasesClear search ×

Nager syndrome

Mandibulofacial dysostosis with preaxial limb anomalies · NAFD

ORPHA:245

Acrocraniofacial dysostosis

Kaplan-Plauchu-Fitch syndrome

ORPHA:949

Acrodysostosis

Acrodysplasia · Arkless-Graham syndrome

ORPHA:950

Acrofacial dysostosis

ORPHA:364574

Acrofacial dysostosis, Palagonia type

ORPHA:1787

Acrofacial dysostosis, Rodríguez type

ORPHA:1788

Acrofacial dysostosis, Weyers type

Curry-Hall syndrome · Weyers acrodental dysostosis

ORPHA:952

Postaxial acrofacial dysostosis

Miller syndrome · POADS

ORPHA:246

Pycnodysostosis

Pyknodysostosis

ORPHA:763