primary hyperoxaluria primary hyperoxaluria type 1 https://github.com/monarch-initiative/mondo/issues/2632 https://github.com/monarch-initiative/mondo/issues/7924 https://rarediseases.info.nih.gov/diseases/2835/primary-hyperoxaluria-type-1 https://www.malacards.org/card/hyperoxaluria_primary_type_i Orphanet:93598 primary hyperoxaluria caused by mutation in AGXT AGXT primary hyperoxaluria peroxisomal alanine-glyoxylate aminotransferase deficiency UMLS:C0268164 GARD:0002835 icd11.foundation:692812009 serine pyruvate aminotransferase deficiency DOID:0111670 MONDO:0009823 ICD9:271.8 NCIT:C123212 SCTID:65520001 OMIM:259900 glycolic aciduria hyperoxaluria, primary, type I peroxisomal alanine glyoxylate aminotransferase deficiency primary hyperoxaluria type 1 NANDO:1200773 primary hyperoxaluria type I PH1 A rare disorder of glyoxylate metabolism characterized by the accumulation of oxalate due to a deficiency of the peroxisomal hepatic enzyme L-alanine: glyoxylate aminotransferase (AGT). Clinical presentation is variable, ranging from occasional symptomatic nephrolithiasis to nephrocalcinosis and end-stage renal disease with systemic involvement. MEDGEN:75658 HP1 MESH:C536414 obsolete disorder of peroxisomal alpha-, beta- and omega-oxidation alanine glyoxylate aminotransferase deficiency obsolete_primary hyperoxaluria type 1