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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"
X-linked immunoneurologic disorder
Woods-Black-Norbury syndrome
Blau syndrome
Lowry-Wood syndrome
Epiphyseal dysplasia-microcephaly-nystagmus syndrome
Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome
PLACK syndrome