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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"
Pearson syndrome
Pearson marrow-pancreas syndrome · PMPS
Congenital insensitivity to pain syndrome, Marsili type
Marsili syndrome
Marshall syndrome
Pierson syndrome
Microcoria-congenital nephrosis syndrome
Pseudoleprechaunism syndrome, Patterson type
Patterson syndrome · Patterson pseudoleprechaunism syndrome