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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"
7p22.1 microduplication syndrome
Dup(7)(p22.1) · Trisomy 7p22.1
1q21.1 microduplication syndrome
Dup(1)(q21.1) · Trisomy 1q21.1
8p23.1 duplication syndrome
Dup(8)(p23.1p23.1) · Trisomy 8p23.1
Xp22.13p22.2 duplication syndrome
Dup(X)(p22) · Dup(X)(p22.13p22.2)