Preferred Name | adenine phosphoribosyltransferase deficiency | |
Synonyms |
APRT deficiency 2,8-dihydroxyadenine urolithiasis |
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Definitions |
A purine-pyrimidine metaobolic disorder characterized by the formation 2,8-dihydroxyadenine stones and renal failure secondary to intratubular crystalline precipitation and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding adenine phosphoribosyltransferase (APRT) on chromosome 16q24. |
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ID |
http://purl.obolibrary.org/obo/DOID_0060350 |
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alternative label |
APRT deficiency 2,8-dihydroxyadenine urolithiasis |
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created by |
elvira |
|
creation_date |
2015-07-02T16:06:22Z |
|
database_cross_reference |
SNOMEDCT_US_2023_03_01:11852004 UMLS_CUI:C3665382 UMLS_CUI:C0268120 NCI:C121564 MESH:C538228 GARD:10666 GARD:546 MIM:614723 |
|
definition |
A purine-pyrimidine metaobolic disorder characterized by the formation 2,8-dihydroxyadenine stones and renal failure secondary to intratubular crystalline precipitation and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding adenine phosphoribosyltransferase (APRT) on chromosome 16q24. |
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has exact synonym |
APRT deficiency 2,8-dihydroxyadenine urolithiasis |
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has material basis in | ||
has_obo_namespace |
disease_ontology |
|
id |
DOID:0060350 |
|
in_subset | ||
label |
adenine phosphoribosyltransferase deficiency |
|
notation |
DOID:0060350 |
|
note |
A purine-pyrimidine metaobolic disorder characterized by the formation 2,8-dihydroxyadenine stones and renal failure secondary to intratubular crystalline precipitation and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding adenine phosphoribosyltransferase (APRT) on chromosome 16q24. |
|
preferred label |
adenine phosphoribosyltransferase deficiency |
|
prefLabel |
adenine phosphoribosyltransferase deficiency |
|
subClassOf |