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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"
Hajdu-Cheney syndrome
Acroosteolysis dominant type · Acroosteolysis with osteoporosis and changes in skull and mandible
Acrodysostosis
Acrodysplasia · Arkless-Graham syndrome
Auriculoosteodysplasia
Nail-patella syndrome
Onychoosteodysplasia · Turner-Kieser syndrome
Oculodentodigital dysplasia
Oculo-dento-digital dysplasia · ODOD syndrome
Primary bone dysplasia
Primary osteodysplasia · Primary skeletal dysplasia