loading...| Preferred Name | adenine phosphoribosyltransferase deficiency | |
| Synonyms |
APRT deficiency 2,8-dihydroxyadenine urolithiasis |
|
| 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. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_0060350 |
|
| alternative label |
APRT deficiency 2,8-dihydroxyadenine urolithiasis |
|
| created by |
elvira |
|
| creation_date |
2015-07-02T16:06:22Z |
|
| database_cross_reference |
SNOMEDCT_US_2023_03_01:11852004 OMIM:614723 UMLS_CUI:C3665382 UMLS_CUI:C0268120 NCI:C121564 MESH:C538228 GARD:10666 GARD:546 |
|
| 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. |
|
| has exact synonym |
APRT deficiency 2,8-dihydroxyadenine urolithiasis |
|
| 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 |