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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"
Microduplication Xp11.22p11.23 syndrome
Dup(X)(p11.22p11.23) · Trisomy Xp11.22p11.23
16p11.2p12.2 microduplication syndrome
Dup(16)(p11.2p12.2) · Trisomy 16p11.2p12.2
22q11.2 duplication syndrome
Dup(22)(q11) · Duplication 22q11.2
7q11.23 microduplication syndrome
Dup(7)(q11.23) · Trisomy 7q11.23
PMP22-RAI1 contiguous gene duplication syndrome
Yuan-Harel-Lupski syndrome · 17p11.2p12 microduplication syndrome
Xp22.13p22.2 duplication syndrome
Dup(X)(p22) · Dup(X)(p22.13p22.2)