OBO ID: DOID:0060350 |
Term Name: | adenine phosphoribosyltransferase deficiency | Search Ontology: | |
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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) | ||
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Ontology: | Human Disease ( DOID:0060350 ) |
OTHER adenine phosphoribosyltransferase deficiency PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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