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Summary Literature (0)
DOID:0060350 - adenine phosphoribosyltransferase deficiency

Disease Ontology 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.

Synonyms: 2,8-dihydroxyadenine urolithiasis, APRT deficiency,

Xenbase Genes : aprt

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0013869 - adenine phosphoribosyltransferase deficiency


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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): amino acid metabolic disorder (is_a), autosomal recessive disease (is_a), purine-pyrimidine metabolic disorder (is_a)