Term Name: | primary hyperoxaluria type 1 |
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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 ) |