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Echinobase
Summary Literature (0)
DOID:0070452 - xanthinuria type I


Disease Ontology 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.

Synonyms: XAN1,

Echinobase Genes : xdh


OMIM:
MIM:278300 - xanthinuria, type i

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): xanthinuria (is_a)