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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"
Osteocraniostenosis
Gracile bone dysplasia · Osteocraniosplenic syndrome
Carnevale syndrome
3MC2 syndrome · Carnevale-Krajewska-Fischetto syndrome
Craniomicromelic syndrome
Juberg-Hayward syndrome
Cleft lip/palate-abnormal thumbs-microcephaly syndrome · Orocraniodigital syndrome
Müllerian derivatives-lymphangiectasia-polydactyly syndrome
Urioste syndrome
Syndromic craniosynostosis