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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"
5q35 microduplication syndrome
Dup(5)(q35) · Trisomy 5q35
5p13 microduplication syndrome
Dup(5)(p13) · Trisomy 5p13
Corpus callosum agenesis-macrocephaly-hypertelorism syndrome
7q36.3 microduplication syndrome · Dup(7)(q36.3)
Deletion 5q35 syndrome
Del (5)(q35) · Del (5)(qter)