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DO Term : primary hyperoxaluria type 1 [DOID:0111670] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • HP1,
  • alanine-glyoxylate aminotransferase deficiency,
  • UMLS_CUI:C0268164,
  • serine pyruvate aminotransferase deficiency,
  • hepatic AGT deficiency,
  • oxalosis I,
  • peroxisomal alanine-glyoxylate aminotransferase deficiency,
  • glycolic aciduria,
  • OMIM:259900,
  • MESH:C536414,
  • ORDO:93598,
  • SNOMEDCT_US_2023_03_01:65520001,
  • 259900,
  • NCI:C123212,
  • GARD:2835
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