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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
14q11.2 microduplication syndrome
Dup(14)(q11.2) · Trisomy 14q11.2
17q12 microduplication syndrome
Dup(17)(q12) · Trisomy 17q12
17q21.31 microduplication syndrome
Dup(17)(q21.31) · Trisomy 17q21.31
1q21.1 microduplication syndrome
Dup(1)(q21.1) · Trisomy 1q21.1
3q26 microduplication syndrome
Dup(3)(q26) · Trisomy 3q26