primary hyperoxaluria type 1 (DOID:0111670)
Alliance: disease page
Synonyms: alanine-glyoxylate aminotransferase deficiency; glycolic aciduria; hepatic AGT deficiency; HP1; oxalosis I; peroxisomal alanine-glyoxylate aminotransferase deficiency; serine pyruvate aminotransferase deficiency
Alt IDs: OMIM:259900, MESH:C536414, NCI:C123212, ORDO:93598, UMLS_CUI:C0268164
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.