| Metadata | |
|---|---|
| ID | DOID:2977 |
| Name | primary hyperoxaluria |
| Definition | A carbohydrate metabolic disorder characterized by impaired glyoxylate metabolism resulting in accumulation of oxalate throughout the body typically manifesting as kidney and bladder stones. https://ghr.nlm.nih.gov/condition/primary-hyperoxaluria, https://www.ncbi.nlm.nih.gov/pubmed/27815184 |
| Xrefs |
SNOMEDCT_US_2023_03_01:190766003 SNOMEDCT_US_2023_03_01:367621000119107 |
| Alternateids |
DOID:2979 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Parent Relationships |