{
    "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": []
}