Term Name: primary hyperoxaluria type 1
Synonyms: alanine-glyoxylate aminotransferase deficiency, glycolic aciduria, hepatic AGT deficiency, HP1, oxalosis I, peroxisomal alanine-glyoxylate aminotransferase deficiency, serine pyruvate aminotransferase deficiency
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.
Ontology: Human Disease [DOID:0111670]   ( DOID:0111670 )

Relationships
is a type of: primary hyperoxaluria