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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"
Craniofacial dysostosis-diaphyseal hyperplasia syndrome
Autosomal dominant osteosclerosis, Stanescu type · Dysostosis, Stanescu type
Acrofacial dysostosis, Catania type
Opitz-Caltabiano syndrome
Acrofacial dysostosis, Weyers type
Curry-Hall syndrome · Weyers acrodental dysostosis
Dysostosis
Spondyloepiphyseal dysplasia, Stanescu type
SED, Stanescu type