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Namespace Prefixes

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rdf	http://www.w3.org/1999/02/22-rdf-syntax-ns#
owl	http://www.w3.org/2002/07/owl#
xsdh	http://www.w3.org/2001/XMLSchema#

Statements

Subject Item

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n7:doid.owl

dc:type

n4:ECO_0007645 n4:ECO_0007637 n4:ECO_0007638

owl:annotatedProperty

n4:IAO_0000115

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n4:DOID_0060350

owl:annotatedTarget

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.

obo:hasDbXref

url:https://pubmed.ncbi.nlm.nih.gov/8864750/ url:https://pubmed.ncbi.nlm.nih.gov/22700886/ url:https://www.ncbi.nlm.nih.gov/pubmed/20150536 url:https://en.wikipedia.org/wiki/Adenine_phosphoribosyltransferase_deficiency url:http://ghr.nlm.nih.gov/condition/adenine-phosphoribosyltransferase-deficiency