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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.

Disease References using Mouse Models (2)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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11/12/2024
MGI 6.24 		The Jackson Laboratory