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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"
Xp22.13p22.2 duplication syndrome
Dup(X)(p22) · Dup(X)(p22.13p22.2)
2p25.3 microduplication syndrome
Trisomy 2p25.3 syndrome · Dup(2)(p25.3)
7p22.1 microduplication syndrome
Dup(7)(p22.1) · Trisomy 7p22.1
Microduplication Xp11.22p11.23 syndrome
Dup(X)(p11.22p11.23) · Trisomy Xp11.22p11.23
Xq25 microduplication syndrome
Dup(X)(q25) · Xq25 microtriplication