FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term primary hyperoxaluria type 1 ID (Ontology) DOID:0111670 (Human Disease)
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.
Also Known As "alanine-glyoxylate aminotransferase deficiency" ; "glycolic aciduria" ; "hepatic AGT deficiency" (for all, see Synonyms field below)
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Data Class Field Records
Alleles (FBal)  HUMAN_DISEASE_INTERACTIONS       1
Human Disease Models (FBhh)  DOID       1
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 Alleles Genes Human Disease Models
 primary hyperoxaluria type 1       1      1      1
 for disease ribbon | primary hyperoxaluria type 1       --       1       --
 model of | primary hyperoxaluria type 1       1      1       --
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  carbohydrate metabolic disorder
   |__primary hyperoxaluria
       |__primary hyperoxaluria type 1  3 rec.
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Synonyms
  • "alanine-glyoxylate aminotransferase deficiency" EXACT
    "glycolic aciduria" EXACT
    "hepatic AGT deficiency" EXACT
    "HP1" EXACT OMO:0003012
    "oxalosis I" EXACT
    "peroxisomal alanine-glyoxylate aminotransferase deficiency" EXACT
    "serine pyruvate aminotransferase deficiency" EXACT
Secondary IDs
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GARD:2835
MESH:C536414
MIM:259900
NCI:C123212
ORDO:93598
SNOMEDCT_US_2023_03_01:65520001
UMLS_CUI:C0268164