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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"
Xq25 microduplication syndrome
Dup(X)(q25) · Xq25 microtriplication
Charcot-Marie-Tooth disease type 1A
CMT1A · Microduplication 17p12
Distal triplication 15q syndrome
Distal tetrasomy 15q · Tetrasomy 15(q25-qter)
Distal Xq28 microduplication syndrome
Int22h1/Int22h2 mediated-Xq28 microduplication syndrome · Distal dup(X)q(28)
Microtriplication 11q24.1 syndrome
Tetrasomy 11q24.1
Xq27.3q28 duplication syndrome
Dup(X)(q27.3q28) · Trisomy Xq27.3-q28