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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"
5p13 microduplication syndrome
Dup(5)(p13) · Trisomy 5p13
16p13.11 microduplication syndrome
Dup(16)(p13.11) · Trisomy 16p13.11
16p13.3 microduplication syndrome
Distal duplication 16p · Distal trisomy 16p
17p13.3 microduplication syndrome
17p13.3 duplication syndrome · Dup(17)(p13.3)
19p13.3 microduplication syndrome
Dup(19)(p13.3)
5q35 microduplication syndrome
Dup(5)(q35) · Trisomy 5q35