Click here to close Hello! We notice that you are using Internet Explorer, which is not supported by Echinobase and may cause the site to display incorrectly. We suggest using a current version of Chrome, FireFox, or Safari.
Echinobase
Summary Literature (0)
DOID:0060350 - adenine phosphoribosyltransferase deficiency

Disease Ontology Definition:An amino acid metabolic disorder characterized by the formation 2,8-dihydroxyadenine stones and renal failure secondary to intratubular crystalline precipitation. It has an autosomal recessive inheritance pattern.

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

Echinobase Genes : aprt


OMIM:
MIM:614723 - adenine phosphoribosyltransferase deficiency; aprtd

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)