Rare Disease Library

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"

7 matching diseasesClear search ×

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C

Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type C · MOCOD type C

ORPHA:308400

Isolated sulfite oxidase deficiency

ISOD · Sulfocysteinuria

ORPHA:99731

Sulfite oxidase deficiency due to molybdenum cofactor deficiency

Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase · MOCOD

ORPHA:99732

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A

Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type A · MOCOD type A

ORPHA:308386

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B

Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type B · MOCOD type B

ORPHA:308393

Xanthinuria type I

XDH deficiency · XO deficiency

ORPHA:93601

Xanthinuria type II

XDH and AOX dual deficiency · Xanthine dehydrogenase and xanthine aldehyde oxidase dual deficiency

ORPHA:93602