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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"
10q22.3q23.3 microduplication syndrome
Dup(10)(q22.3q23.3) · Trisomy 10q22.3q23.3
10q22.3q23.3 microdeletion syndrome
Del(10)(q22.3q23.3) · Deletion 10q22.3q23.3
1q21.1 microduplication syndrome
Dup(1)(q21.1) · Trisomy 1q21.1
2q23.1 microduplication syndrome
Dup(2)(q23.1) · Trisomy 2q23.1
3q26 microduplication syndrome
Dup(3)(q26) · Trisomy 3q26
Jacobsen syndrome
Chromosome 11q deletion syndrome · Del(11)(q23.3)
Xq27.3q28 duplication syndrome
Dup(X)(q27.3q28) · Trisomy Xq27.3-q28