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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"
Carpotarsal osteochondromatosis
Maroteaux-Le Merrer-Bensahel syndrome
Acrodysostosis
Acrodysplasia · Arkless-Graham syndrome
Lethal recessive chondrodysplasia
Maroteaux-Stanescu-Cousin syndrome
Metaphyseal anadysplasia
Maroteaux-Verloes-Stanescu syndrome · Regressive metaphyseal dysplasia