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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"
Xp22.3 microdeletion syndrome
Del(X)(p23)
1p21.3 microdeletion syndrome
Monosomy 1p21.3 · Del(1)(p21.3)
2p21 microdeletion syndrome
2p21 deletion syndrome · Del(2)(p21)
6p22 microdeletion syndrome
Del(6)(p22) · Monosomy 6p22
8p23.1 microdeletion syndrome
Del(8)(p23.1) · Monosomy 8p23.1
Xp21 deletion syndrome
Del(X)(p21) · Xp21 contiguous gene deletion syndrome
Xq21 microdeletion syndrome
Ayazi syndrome · Monosomy Xq21