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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"
Trichodermodysplasia-dental alterations syndrome
Pinheiro-Freire Maia-Miranda syndrome
Neurofaciodigitorenal syndrome
Freire Maia-Pinheiro-Opitz syndrome
Oculotrichodysplasia
Cecato de Lima-Pinheiro syndrome
Odontotrichomelic syndrome
Freire-Maia syndrome