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. |
|
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 |
|
subClassOf |
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