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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"
Cleft palate-short stature-vertebral anomalies syndrome
Mathieu-De Broca-Bony syndrome
De Barsy syndrome
Cutis laxa-corneal clouding-intellectual disability syndrome · Progeroid syndrome, De Barsy type
Septo-optic dysplasia spectrum
De Morsier syndrome · SOD
Thumb stiffness-brachydactyly-intellectual disability syndrome
Piussan-Lenaerts-Mathieu syndrome