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"

10 matching diseasesClear search ×

Otomandibular syndrome

First branchial arch syndrome · Laterofacial microsomia

ORPHA:141136

Dysostosis

ORPHA:364559

Femur-fibula-ulna complex

FFU complex · Femur-fibula-ulna dysostosis

ORPHA:2019

Hypomandibular faciocranial dysostosis

ORPHA:1790

Mandibulofacial dysostosis

Bilateral and symmetric oto-mandibular dysplasia

ORPHA:155899

Mandibulofacial dysostosis with alopecia

MFDA

ORPHA:443995

Oromandibular dystonia

ORPHA:93958

Otomandibular dysplasia

ORPHA:155896

Patellar dysostosis

ORPHA:93455

X-linked mandibulofacial dysostosis

Mandibulofacial dysostosis, Toriello type · X-linked branchial arch syndrome

ORPHA:1131