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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"
Cleidocranial dysplasia
Cleidocranial dysostosis
Acrocraniofacial dysostosis
Kaplan-Plauchu-Fitch syndrome
Acrofacial dysostosis
Acrofacial dysostosis, Catania type
Opitz-Caltabiano syndrome
Crouzon syndrome
Crouzon craniofacial dysostosis
Dysostosis
Hypomandibular faciocranial dysostosis