| Metadata | |
|---|---|
| ID | DOID:0111670 |
| Name | primary hyperoxaluria type 1 |
| Definition | A primary hyperoxaluria characterized by failure to transaminate glyoxylate resulting in accumulation of calcium oxalate in various tissues that has_material_basis_in homozygous or compound heterozygous mutation in the AGXT gene on chromosome 2q37.3. https://www.ncbi.nlm.nih.gov/pubmed/19479957, https://www.ncbi.nlm.nih.gov/pubmed/2039493 |
| Xrefs |
SNOMEDCT_US_2023_03_01:65520001 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
alanine-glyoxylate aminotransferase deficiency [EXACT] glycolic aciduria [EXACT] hepatic AGT deficiency [EXACT] HP1 [EXACT] oxalosis I [EXACT] peroxisomal alanine-glyoxylate aminotransferase deficiency [EXACT] serine pyruvate aminotransferase deficiency [EXACT] |
| Parent Relationships |