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loading...| Preferred Name | Adenine phosphoribosyltransferase deficiency | |
| Synonyms |
APRTD |
|
| 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://identifiers.org/omim/614723 |
|
| altLabel |
APRTD |
|
| definition |
(APRTD) - An enzymatic deficiency that can lead to urolithiasis and renal failure. Patients have 2,8-dihydroxyadenine (DHA) urinary stones. |
|
| id |
OMIM:614723 |
|
| notation |
OMIM:614723 |
|
| prefLabel |
Adenine phosphoribosyltransferase deficiency |
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| subClassOf |
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