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DOID:0111670 - primary hyperoxaluria type 1
Disease Ontology 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.
Synonyms: serine:pyruvate aminotransferase deficiency, alanine-glyoxylate aminotransferase deficiency, hepatic AGT deficiency, HP1, oxalosis I, glycolic aciduria, serine pyruvate aminotransferase deficiency, peroxisomal alanine-glyoxylate aminotransferase deficiency
Xenbase Genes
:
agxt
| MIM:259900 - HYPEROXALURIA, PRIMARY, TYPE I; HP1 |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view
Parent(s):
primary hyperoxaluria (is_a)