"disease_ontology"^^ . _:vb50938688 . . "GARD:546"^^ . "UMLS_CUI:C3665382"^^ . "OMIM:614723"^^ . . "adenine phosphoribosyltransferase deficiency"^^ . "DOID:0060350"^^ . "UMLS_CUI:C0268120"^^ . "APRT deficiency"@en . "SNOMEDCT_US_2021_09_01:11852004"^^ . "NCI:C121564"^^ . _:vb50938688 . . "MESH:C538228"^^ . _:vb50938688 . "2,8-dihydroxyadenine urolithiasis"@en . . "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."^^ . . "2015-07-02T16:06:22Z"^^ . _:vb50938688 . "elvira"^^ . "GARD:10666"^^ . _:vb50938688 .