Term Name: xanthinuria type I
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.
Ontology: Human Disease [DOID:0070452]   ( DOID:0070452 )

Relationships
is a type of: xanthinuria