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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"
14q32 duplication syndrome
Dup(14)q(32) · Predisposition to adult-onset myeloproliferative neoplasm due to 14q32 duplication
Myeloproliferative neoplasm
MPD · MPN