Term Name:	adenine phosphoribosyltransferase deficiency
Synonyms:	2,8-dihydroxyadenine urolithiasis, APRT deficiency
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.
Ontology:	Human Disease [DOID:0060350]   ( DOID:0060350 )