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
(all 7)
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
(all 7)
Ontology
Human Disease   ( DOID:0111670 )
Relationships
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Your Input Welcome
We welcome your input and comments. Please use this form to recommend updates to the information in ZFIN. We appreciate as much detail as possible and references as appropriate. We will review your comments promptly.