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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"
Microspherophakia-metaphyseal dysplasia syndrome
Verloes-Van Maldergem-de Marneffe syndrome
Cerebrofacioarticular syndrome
Van Maldergem syndrome
Duane anomaly-myopathy-scoliosis syndrome
Verloes-Deprez syndrome
Mesomelia-synostoses syndrome
8q13 microdeletion syndrome · Del(8)q(13)
Metaphyseal anadysplasia
Maroteaux-Verloes-Stanescu syndrome · Regressive metaphyseal dysplasia
Van der Woude syndrome
Cleft lip/palate with mucous cysts of lower lip · Lip-pit syndrome