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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"
Trisomy 20p syndrome
Dup(20p) · Duplication of 20p
20q11.2 microduplication syndrome
Dup(20)(q11.2)
22q11.2 duplication syndrome
Dup(22)(q11) · Duplication 22q11.2