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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"
16p12.1p12.3 triplication syndrome
Tetrasomy 16p12.1p12.3 · Trip(16)(p12.1p12.3)
Distal triplication 15q syndrome
Distal tetrasomy 15q · Tetrasomy 15(q25-qter)
Microtriplication 11q24.1 syndrome
Tetrasomy 11q24.1