xanthinuria type I Disease Ontology Browser

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Disease Ontology Browser

xanthinuria type I (DOID:0070452)
Alliance: disease page
Synonyms: XAN1
Alt IDs: OMIM:278300, MESH:C562584, ORDO:93601, UMLS_CUI:C0268118
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.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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