loading...| Preferred Name | adenine phosphoribosyltransferase deficiency | |
| Synonyms |
urolithiasis, 2,8-dihydroxyadenine urolithiasis, Dha nephrolithiasis, Dha Dihydroxyadeninuria APRTD 2,8-dihydroxyadeninuria disease adenine phosphoribosyltransferase deficiency APRT deficiency 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 |
|
| database_cross_reference |
SCTID:124274002 Orphanet:976 MEDGEN:82772 OMIM:614723 NANDO:2200587 NCIT:C121564 DOID:0060350 UMLS:C0268120 MESH:C538228 GARD:546 |
|
| 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. |
|
| exactMatch |
http://www.orpha.net/ORDO/Orphanet_976 http://purl.obolibrary.org/obo/NCIT_C121564 http://identifiers.org/medgen/82772 http://identifiers.org/snomedct/124274002 http://purl.obolibrary.org/obo/DOID_0060350 http://linkedlifedata.com/resource/umls/id/C0268120 |
|
| has_exact_synonym |
2,8-dihydroxyadeninuria disease adenine phosphoribosyltransferase deficiency APRT deficiency 2,8-dihydroxyadenine urolithiasis |
|
| has_related_synonym |
urolithiasis, 2,8-dihydroxyadenine urolithiasis, Dha nephrolithiasis, Dha Dihydroxyadeninuria APRTD |
|
| id |
MONDO:0013869 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo#ordo_disorder http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#nord_rare http://purl.obolibrary.org/obo/mondo#orphanet_rare |
|
| label |
adenine phosphoribosyltransferase deficiency |
|
| notation |
MONDO:0013869 |
|
| preferred label |
adenine phosphoribosyltransferase deficiency |
|
| prefLabel |
adenine phosphoribosyltransferase deficiency |
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| see also |
https://rarediseases.info.nih.gov/diseases/10666/dihydroxyadeninuria |
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| excluded_subClassOf | ||
| subClassOf |