Preferred Name | Adenine phosphoribosyltransferase deficiency | |
Synonyms |
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Definitions |
(APRTD): An enzymatic deficiency that can lead to urolithiasis and renal failure. Patients have 2,8-dihydroxyadenine (DHA) urinary stones. |
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ID |
http://purl.obolibrary.org/obo/OMIM_614723 |
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definition |
(APRTD): An enzymatic deficiency that can lead to urolithiasis and renal failure. Patients have 2,8-dihydroxyadenine (DHA) urinary stones. |
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has_obo_namespace |
cell_cycle_ontology |
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id |
OMIM:614723 |
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label |
Adenine phosphoribosyltransferase deficiency |
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notation |
OMIM:614723 |
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prefLabel |
Adenine phosphoribosyltransferase deficiency |
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treeView | ||
subClassOf |
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