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 |
|
| 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 |
|
| closeMatch | ||
| database_cross_reference |
MESH:C538228 NCIT:C121564 Orphanet:976 OMIM:614723 GARD:0010666 DOID:0060350 SCTID:124274002 UMLS:C0268120 GARD:0000546 ICD10:E79.8 |
|
| disease has basis in dysfunction of | ||
| exactMatch |
http://www.orpha.net/ORDO/Orphanet_976 http://purl.obolibrary.org/obo/NCIT_C121564 http://identifiers.org/snomedct/124274002 http://identifiers.org/omim/614723 http://purl.obolibrary.org/obo/DOID_0060350 |
|
| has exact synonym |
adenine phosphoribosyltransferase deficiency APRT deficiency 2,8-dihydroxyadeninuria disease 2,8-dihydroxyadenine urolithiasis |
|
| has related synonym |
APRTD urolithiasis, Dha Dihydroxyadeninuria nephrolithiasis, Dha urolithiasis, 2,8-dihydroxyadenine |
|
| id |
MONDO:0013869 |
|
| imported from | ||
| in_subset | ||
| label |
adenine phosphoribosyltransferase deficiency |
|
| notation |
MONDO:0013869 |
|
| prefLabel |
adenine phosphoribosyltransferase deficiency |
|
| see also |
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_0019743 |