| Dataset | OMIM Gene-Disease Associations |
| Category | disease or phenotype associations |
| Type | phenotype |
| 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 | http://www.omim.org/entry/614723 |
| Similar Terms | |
| Downloads & Tools |
1 genes associated with the adenine phosphoribosyltransferase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
| Symbol | Name |
|---|---|
| APRT | adenine phosphoribosyltransferase |
