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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"
8p23.1 duplication syndrome
Dup(8)(p23.1p23.1) · Trisomy 8p23.1
2q23.1 microduplication syndrome
Dup(2)(q23.1) · Trisomy 2q23.1
7p22.1 microduplication syndrome
Dup(7)(p22.1) · Trisomy 7p22.1
8p23.1 microdeletion syndrome
Del(8)(p23.1) · Monosomy 8p23.1