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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"
Mandibulofacial dysostosis
Bilateral and symmetric oto-mandibular dysplasia
Bilateral multicystic dysplastic kidney
Bilateral MCDK · Bilateral multicystic renal dysplasia
Mandibuloacral dysplasia
MAD
Otomandibular dysplasia
Otomandibular dysplasia associated with monogenic syndromes
Renal dysplasia, bilateral
Kidney dysplasia, bilateral