loading...| Preferred Name | adenine phosphoribosyltransferase deficiency | |
| Synonyms |
APRTD urolithiasis, Dha Dihydroxyadeninuria nephrolithiasis, Dha urolithiasis, 2,8-dihydroxyadenine adenine phosphoribosyltransferase deficiency APRT deficiency 2,8-dihydroxyadeninuria disease 2,8-dihydroxyadenine urolithiasis |
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| Definitions |
Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive (AR) disorder characterized by the formation and hyperexcretion of 2,8-dihydroxyadenine (2,8-DHA) in urine, causing urolithiasis and crystalline nephropathy. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0013869 |
|
| altLabel |
APRTD urolithiasis, Dha Dihydroxyadeninuria nephrolithiasis, Dha urolithiasis, 2,8-dihydroxyadenine adenine phosphoribosyltransferase deficiency APRT deficiency 2,8-dihydroxyadeninuria disease 2,8-dihydroxyadenine urolithiasis |
|
| definition |
Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive (AR) disorder characterized by the formation and hyperexcretion of 2,8-dihydroxyadenine (2,8-DHA) in urine, causing urolithiasis and crystalline nephropathy. |
|
| has_exact_synonym |
adenine phosphoribosyltransferase deficiency APRT deficiency 2,8-dihydroxyadeninuria disease 2,8-dihydroxyadenine urolithiasis |
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| has_related_synonym |
APRTD urolithiasis, Dha Dihydroxyadeninuria nephrolithiasis, Dha urolithiasis, 2,8-dihydroxyadenine |
|
| label |
adenine phosphoribosyltransferase deficiency |
|
| prefixIRI |
MONDO:0013869 |
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| prefLabel |
adenine phosphoribosyltransferase deficiency |
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| seeAlso |
https://rarediseases.info.nih.gov/diseases/10666/dihydroxyadeninuria |
|
| textual definition |
Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive (AR) disorder characterized by the formation and hyperexcretion of 2,8-dihydroxyadenine (2,8-DHA) in urine, causing urolithiasis and crystalline nephropathy. |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0100191 http://purl.obolibrary.org/obo/MONDO_0019743 |