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Xanthinuria type I
1 OMIM reference -
1 associated gene
4 connected diseases
No signs/symptoms info
Disease Type of connection
Burkitt lymphoma
Precursor T-cell acute lymphoblastic leukemia
CADASIL
Infantile myofibromatosis
Synonym(s):
- XDH deficiency
- XO deficiency
- XOR deficiency
- Xanthine dehydrogenase deficiency
- Xanthine oxidase deficiency
- Xanthine oxidoreductase deficiency
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare renal disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
XDH P47989607633
No signs/symptoms info available.