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"

8 matching diseasesClear search ×

Maxillonasal dysplasia

Binder syndrome · Maxillonasal dysostosis

ORPHA:1248

Acrofacial dysostosis

ORPHA:364574

Acrofrontofacionasal dysostosis

Richieri-Costa-Colletto syndrome

ORPHA:1784

Acromelic frontonasal dysplasia

Acromelic frontonasal dysostosis · AFND

ORPHA:1827

Dysostosis

ORPHA:364559

Lysosomal storage disease with skeletal involvement

Dysostosis multiplex

ORPHA:93448

Mandibulofacial dysostosis

Bilateral and symmetric oto-mandibular dysplasia

ORPHA:155899

Oculomaxillofacial dysostosis

Richieri-Costa-Gorlin syndrome

ORPHA:1794