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"

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X-linked creatine transporter deficiency

Creatine transporter deficiency · SLC6A8 deficiency

ORPHA:52503

Xanthinuria type I

XDH deficiency · XO deficiency

ORPHA:93601

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