Search Ontology:
Human Disease

primary hyperoxaluria type 1

Term ID
DOID:0111670
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. (2)
References
Ontology
Human Disease   ( DOID:0111670 )
Relationships
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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