loading...| Preferred Name | adenine phosphoribosyltransferase deficiency | |
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| Definitions |
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. |
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| ID |
http://purl.obolibrary.org/obo/DOID_0060350 |
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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. |
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| label |
adenine phosphoribosyltransferase deficiency |
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| prefixIRI |
DOID:0060350 |
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| prefLabel |
adenine phosphoribosyltransferase deficiency |
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