| Dataset | DisGeNET Gene-Disease Associations |
| Category | disease or phenotype associations |
| Type | disease |
| Description | 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. (Orphanet Rare Disease Ontology, Orphanet_976) |
| External Link | https://www.disgenet.org/browser/0/1/0/C0268120 |
| Similar Terms | |
| Downloads & Tools |
3 genes associated with the disease Adenine Phosphoribosyltransferase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
