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adenine phosphoribosyltransferase deficiency (DOID:0060350)
Alliance: disease page
Synonyms: 2,8-dihydroxyadenine urolithiasis; APRT deficiency
Alt IDs: OMIM:614723, MESH:C538228, NCI:C121564, UMLS_CUI:C0268120, UMLS_CUI:C3665382
Definition: A purine-pyrimidine metaobolic disorder characterized by the formation 2,8-dihydroxyadenine stones and renal failure secondary to intratubular crystalline precipitation and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding adenine phosphoribosyltransferase (APRT) on chromosome 16q24.

Disease References using Mouse Models (2)
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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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory