|OBO ID: DOID:0060350|
|Term Name:||adenine phosphoribosyltransferase deficiency||Search 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. (5)|
|Ontology:||Human Disease (DOID:0060350)|
|is a type of:||
OTHER adenine phosphoribosyltransferase deficiency PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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