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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"
Xanthinuria type I
XDH deficiency · XO deficiency
Xanthinuria type II
XDH and AOX dual deficiency · Xanthine dehydrogenase and xanthine aldehyde oxidase dual deficiency
Xp21 deletion syndrome
Del(X)(p21) · Xp21 contiguous gene deletion syndrome