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| Term | adenine phosphoribosyltransferase deficiency | ID (Ontology) | DOID:0060350 (Human Disease) |
| 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. | ||
| Also Known As | "2,8-dihydroxyadenine urolithiasis" ; "APRT deficiency" | ||
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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autosomal genetic disease |__autosomal recessive disease___________ inherited metabolic disorder | |__purine-pyrimidine metabolic disorder__| adenine phosphoribosyltransferase deficiency 1 rec. |
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| Is a |
autosomal recessive disease purine-pyrimidine metabolic disorder |
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GARD:10666 GARD:546 MESH:C538228 MIM:614723 NCI:C121564 SNOMEDCT_US_2023_03_01:11852004 UMLS_CUI:C0268120 UMLS_CUI:C3665382 |
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