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. |
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ID |
http://purl.obolibrary.org/obo/MONDO_0013869 |
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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 |
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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 |
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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 |
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id |
MONDO:0013869 |
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imported from | ||
in_subset | ||
label |
adenine phosphoribosyltransferase deficiency |
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notation |
MONDO:0013869 |
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prefLabel |
adenine phosphoribosyltransferase deficiency |
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see also |
https://rarediseases.info.nih.gov/diseases/10666/dihydroxyadeninuria |
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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. |
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subClassOf |
http://purl.obolibrary.org/obo/MONDO_0019743 |