| Metadata | |
|---|---|
| ID | DOID:0111671 |
| Name | primary hyperoxaluria type 2 |
| Definition | A primary hyperoxaluria characterized by elevated urinary excretion of oxalate and L-glycerate, recurrent nephrolithiasis and nephrocalcinosis, and end-stage renal disease that has_material_basis_in homozygous or compound heterozygous mutation in the GRHPR gene on chromosome 9p13.2. https://www.ncbi.nlm.nih.gov/books/NBK2692/, https://www.ncbi.nlm.nih.gov/pubmed/10484776 |
| Xrefs |
SNOMEDCT_US_2023_03_01:40951006 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
D-glycerate dehydrogenase deficiency [EXACT] glyoxylate reductase/hydroxypyruvate reductase deficiency [EXACT] HP2 [EXACT] L-glyceric aciduria [EXACT] oxalosis II [EXACT] |
| Parent Relationships |