{
    "disease_id": "DOID:0111670",
    "recommended_name": {
        "id": "DOID:0111670",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111670",
        "name": "primary hyperoxaluria type 1",
        "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": [
        {
            "id": "DOID:0111670",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111670",
            "name": "HP1",
            "description": ""
        },
        {
            "id": "DOID:0111670",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111670",
            "name": "alanine-glyoxylate aminotransferase deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111670",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111670",
            "name": "glycolic aciduria",
            "description": ""
        },
        {
            "id": "DOID:0111670",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111670",
            "name": "hepatic AGT deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111670",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111670",
            "name": "oxalosis I",
            "description": ""
        },
        {
            "id": "DOID:0111670",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111670",
            "name": "peroxisomal alanine-glyoxylate aminotransferase deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111670",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111670",
            "name": "serine pyruvate aminotransferase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009823",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009823",
            "name": "primary hyperoxaluria type 1",
            "description": "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."
        },
        {
            "id": "MONDO:0009823",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009823",
            "name": "AGXT primary hyperoxaluria",
            "description": ""
        },
        {
            "id": "MONDO:0009823",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009823",
            "name": "PH1",
            "description": ""
        },
        {
            "id": "MONDO:0009823",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009823",
            "name": "glycolic aciduria",
            "description": ""
        },
        {
            "id": "MONDO:0009823",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009823",
            "name": "peroxisomal alanine-glyoxylate aminotransferase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009823",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009823",
            "name": "primary hyperoxaluria caused by mutation in AGXT",
            "description": ""
        },
        {
            "id": "MONDO:0009823",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009823",
            "name": "primary hyperoxaluria type 1",
            "description": ""
        },
        {
            "id": "MONDO:0009823",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009823",
            "name": "primary hyperoxaluria type I",
            "description": ""
        },
        {
            "id": "MONDO:0009823",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009823",
            "name": "HP1",
            "description": ""
        },
        {
            "id": "MONDO:0009823",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009823",
            "name": "hyperoxaluria, primary, type I",
            "description": ""
        },
        {
            "id": "MONDO:0009823",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009823",
            "name": "peroxisomal alanine glyoxylate aminotransferase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009823",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009823",
            "name": "serine pyruvate aminotransferase deficiency",
            "description": ""
        },
        {
            "id": "MIM:259900",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/259900",
            "name": "Hyperoxaluria primary 1",
            "description": "Hyperoxaluria primary 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111670"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111670",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111670",
            "categories": []
        },
        {
            "id": "MONDO:0009823",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009823",
            "categories": []
        },
        {
            "id": "MIM:259900",
            "database": "MIM",
            "url": "https://www.omim.org/entry/259900",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "O35423-1",
            "uniprot_ac": "O35423",
            "uniprot_id": "AGT1_MOUSE",
            "refseq_ac": "NP_057911",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alanine--glyoxylate aminotransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.6.1.44",
                    "type": "synonym"
                },
                {
                    "name": "2.6.1.51",
                    "type": "synonym"
                },
                {
                    "name": "AGT",
                    "type": "synonym"
                },
                {
                    "name": "SPT",
                    "type": "synonym"
                },
                {
                    "name": "Serine--pyruvate aminotransferase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "alanine--glyoxylate aminotransferase isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "alanine-glyoxylate aminotransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "serine--pyruvate aminotransferase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "serine--pyruvate aminotransferase, peroxisomal",
                    "type": "synonym"
                },
                {
                    "name": "serine-pyruvate aminotransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Agxt",
                    "type": "recommended"
                },
                {
                    "name": "AGT",
                    "type": "synonym"
                },
                {
                    "name": "Agt1",
                    "type": "synonym"
                },
                {
                    "name": "Agxt1",
                    "type": "synonym"
                },
                {
                    "name": "Agxt",
                    "type": "synonym"
                },
                {
                    "name": "SPT",
                    "type": "synonym"
                }
            ],
            "record_id": "O35423-1",
            "evidence": [
                {
                    "id": "0111670",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111670"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P21549-1",
            "uniprot_ac": "P21549",
            "uniprot_id": "AGT1_HUMAN",
            "refseq_ac": "NP_000021",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alanine--glyoxylate aminotransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.6.1.44",
                    "type": "synonym"
                },
                {
                    "name": "2.6.1.51",
                    "type": "synonym"
                },
                {
                    "name": "AGT",
                    "type": "synonym"
                },
                {
                    "name": "L-alanine: glyoxylate aminotransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "SPT",
                    "type": "synonym"
                },
                {
                    "name": "Serine--pyruvate aminotransferase",
                    "type": "synonym"
                },
                {
                    "name": "alanine--glyoxylate aminotransferase",
                    "type": "synonym"
                },
                {
                    "name": "alanine--glyoxylate and serine--pyruvate aminotransferase",
                    "type": "synonym"
                },
                {
                    "name": "hepatic peroxisomal alanine:glyoxylate aminotransferase",
                    "type": "synonym"
                },
                {
                    "name": "serine--pyruvate aminotransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "AGXT",
                    "type": "recommended"
                },
                {
                    "name": "AGT1",
                    "type": "synonym"
                },
                {
                    "name": "AGT",
                    "type": "synonym"
                },
                {
                    "name": "AGXT1",
                    "type": "synonym"
                },
                {
                    "name": "AGXT",
                    "type": "synonym"
                },
                {
                    "name": "PH1",
                    "type": "synonym"
                },
                {
                    "name": "SPAT",
                    "type": "synonym"
                },
                {
                    "name": "SPT",
                    "type": "synonym"
                },
                {
                    "name": "Ser-PyrAT",
                    "type": "synonym"
                },
                {
                    "name": "TLH6",
                    "type": "synonym"
                }
            ],
            "record_id": "P21549-1",
            "evidence": [
                {
                    "id": "259900",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/259900"
                },
                {
                    "id": "0111670",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111670"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P43567-1",
            "uniprot_ac": "P43567",
            "uniprot_id": "AGX1_YEAST",
            "refseq_ac": "NP_116623",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alanine--glyoxylate aminotransferase 1",
                    "type": "recommended"
                },
                {
                    "name": "2.6.1.44",
                    "type": "synonym"
                },
                {
                    "name": "alanine--glyoxylate transaminase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "AGX1",
                    "type": "recommended"
                },
                {
                    "name": "AGX1",
                    "type": "synonym"
                }
            ],
            "record_id": "P43567-1",
            "evidence": [
                {
                    "id": "0111670",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111670"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P09139-1",
            "uniprot_ac": "P09139",
            "uniprot_id": "AGT1_RAT",
            "refseq_ac": "NP_001263635",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alanine--glyoxylate aminotransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.6.1.44",
                    "type": "synonym"
                },
                {
                    "name": "2.6.1.51",
                    "type": "synonym"
                },
                {
                    "name": "AGT",
                    "type": "synonym"
                },
                {
                    "name": "SPT",
                    "type": "synonym"
                },
                {
                    "name": "Serine--pyruvate aminotransferase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "alanine--glyoxylate and serine--pyruvate aminotransferase",
                    "type": "synonym"
                },
                {
                    "name": "angiotensin receptor 2",
                    "type": "synonym"
                },
                {
                    "name": "serine--pyruvate aminotransferase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "serine--pyruvate aminotransferase, peroxisomal isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "serine--pyruvate aminotransferase, peroxisomal",
                    "type": "synonym"
                },
                {
                    "name": "serine-pyruvate aminotransferase",
                    "type": "synonym"
                },
                {
                    "name": "serine:pyruvate aminotransferase SPT",
                    "type": "synonym"
                },
                {
                    "name": "serine:pyruvate/alanine:glyoxylate aminotransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Agxt",
                    "type": "recommended"
                },
                {
                    "name": "AGT",
                    "type": "synonym"
                },
                {
                    "name": "Agt1",
                    "type": "synonym"
                },
                {
                    "name": "Agxt",
                    "type": "synonym"
                },
                {
                    "name": "SPT",
                    "type": "synonym"
                },
                {
                    "name": "Spat",
                    "type": "synonym"
                }
            ],
            "record_id": "P09139-1",
            "evidence": [
                {
                    "id": "0111670",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111670"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W3Z3-1",
            "uniprot_ac": "Q9W3Z3",
            "uniprot_id": "AGT_DROME",
            "refseq_ac": "NP_511062",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alanine--glyoxylate aminotransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.6.1.44",
                    "type": "synonym"
                },
                {
                    "name": "AGT",
                    "type": "synonym"
                },
                {
                    "name": "Agxt-PA",
                    "type": "synonym"
                },
                {
                    "name": "Alanine-glyoxylate aminotransferase",
                    "type": "synonym"
                },
                {
                    "name": "CG3926-PA",
                    "type": "synonym"
                },
                {
                    "name": "serine pyruvate aminotransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Agxt",
                    "type": "recommended"
                },
                {
                    "name": "AGXT",
                    "type": "synonym"
                },
                {
                    "name": "Agxt",
                    "type": "synonym"
                },
                {
                    "name": "CG3926",
                    "type": "synonym"
                },
                {
                    "name": "Dm-Spat",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3926",
                    "type": "synonym"
                },
                {
                    "name": "Spat",
                    "type": "synonym"
                },
                {
                    "name": "dAGXT",
                    "type": "synonym"
                },
                {
                    "name": "dAgxt",
                    "type": "synonym"
                },
                {
                    "name": "spat",
                    "type": "synonym"
                },
                {
                    "name": "spa",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W3Z3-1",
            "evidence": [
                {
                    "id": "0111670",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111670"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O14773-1",
            "uniprot_ac": "O14773",
            "uniprot_id": "TPP1_HUMAN",
            "refseq_ac": "NP_000382",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tripeptidyl-peptidase 1",
                    "type": "recommended"
                },
                {
                    "name": "3.4.14.9",
                    "type": "synonym"
                },
                {
                    "name": "Cell growth-inhibiting gene 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "LPIC",
                    "type": "synonym"
                },
                {
                    "name": "Lysosomal pepstatin-insensitive protease",
                    "type": "synonym"
                },
                {
                    "name": "TPP-1",
                    "type": "synonym"
                },
                {
                    "name": "TPP-I",
                    "type": "synonym"
                },
                {
                    "name": "Tripeptidyl aminopeptidase",
                    "type": "synonym"
                },
                {
                    "name": "Tripeptidyl-peptidase I",
                    "type": "synonym"
                },
                {
                    "name": "cell growth-inhibiting gene 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "growth-inhibiting protein 1",
                    "type": "synonym"
                },
                {
                    "name": "lysosomal pepstatin insensitive protease",
                    "type": "synonym"
                },
                {
                    "name": "lysosomal pepstatin-insensitive carboxypeptidase",
                    "type": "synonym"
                },
                {
                    "name": "tripeptidyl aminopeptidase",
                    "type": "synonym"
                },
                {
                    "name": "tripeptidyl peptidase I",
                    "type": "synonym"
                },
                {
                    "name": "tripeptidyl-peptidase 1 preproprotein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TPP1",
                    "type": "recommended"
                },
                {
                    "name": "CLN2",
                    "type": "synonym"
                },
                {
                    "name": "GIG1",
                    "type": "synonym"
                },
                {
                    "name": "LPIC",
                    "type": "synonym"
                },
                {
                    "name": "PRO304",
                    "type": "synonym"
                },
                {
                    "name": "SCAR7",
                    "type": "synonym"
                },
                {
                    "name": "TPP-1",
                    "type": "synonym"
                },
                {
                    "name": "TPP1",
                    "type": "synonym"
                }
            ],
            "record_id": "O14773-1",
            "evidence": [
                {
                    "id": "0111670",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111670"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111670"
}