| Metadata | |
|---|---|
| ID | DOID:0060350 |
| Name | adenine phosphoribosyltransferase deficiency |
| 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. http://ghr.nlm.nih.gov/condition/adenine-phosphoribosyltransferase-deficiency, https://en.wikipedia.org/wiki/Adenine_phosphoribosyltransferase_deficiency, https://pubmed.ncbi.nlm.nih.gov/22700886/, https://pubmed.ncbi.nlm.nih.gov/8864750/, https://www.ncbi.nlm.nih.gov/pubmed/20150536 |
| Xrefs |
SNOMEDCT_US_2023_03_01:11852004 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
2,8-dihydroxyadenine urolithiasis [EXACT] APRT deficiency [EXACT] |
| Parent Relationships |