Adenine Phosphoribosyltransferase Deficiency
| Disease Aliases (15) | 2,8-dihydroxyadenine urolithiasis 2,8-dihydroxyadeninuria 2,8-dihydroxyadeninuria disease Aprt deficiency Aprtd Adenine phosphoribosyl transferase deficiency Adenine phosphoribosyltransferase deficiency Dha crystalline nephropathy Deficiency of amp pyrophorylase Deficiency of adenine phosphoribosyltransferase Dihydroxyadeninuria Nephrolithiasis, dha Urolithiasis, 2,8-dihydroxyadenine Urolithiasis, dha Adenine phosphoribosyltransferase deficiency; aprtd |
Associated Genes (1) NCBI-RefSeq: APRT (Adenine phosphoribosyltransferase) External Links: gnomAD browser Ensembl GeneCards
| |||||||
| Cross-references of Adenine phosphoribosyltransferase deficiency | OMIM | GARD | Orphanet | NCBI-GTR | NCBI-MedGen | MalaCards | MeSH | Annotations | |