Search Ontology:
Human Disease

xanthinuria type I

Term ID
DOID:0070452
Synonyms
  • XAN1
Definition
A xanthinuria characterized by isolated deficiency of xanthine dehydrogenase that has_material_basis_in homozygous or compound heterozygous mutation in the XDH gene on chromosome 2p23. https://pubmed.ncbi.nlm.nih.gov/9153281/
References
Ontology
Human Disease   ( DOID:0070452 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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