{
    "disease_id": "DOID:0111671",
    "recommended_name": {
        "id": "DOID:0111671",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111671",
        "name": "primary hyperoxaluria type 2",
        "description": "A primary hyperoxaluria characterized by elevated urinary excretion of oxalate and L-glycerate, recurrent nephrolithiasis and nephrocalcinosis, and end-stage renal disease that has_material_basis_in homozygous or compound heterozygous mutation in the GRHPR gene on chromosome 9p13.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111671",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111671",
            "name": "D-glycerate dehydrogenase deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111671",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111671",
            "name": "HP2",
            "description": ""
        },
        {
            "id": "DOID:0111671",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111671",
            "name": "L-glyceric aciduria",
            "description": ""
        },
        {
            "id": "DOID:0111671",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111671",
            "name": "glyoxylate reductase/hydroxypyruvate reductase deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111671",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111671",
            "name": "oxalosis II",
            "description": ""
        },
        {
            "id": "MONDO:0009824",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009824",
            "name": "primary hyperoxaluria type 2",
            "description": "Primary hyperoxaluria (PH) type 2 is a rare disorder of glyoxylate metabolism caused by the deficiency of the enzyme glyoxylate reductase/hydropyruvate reductase (GR/HPR) characterized by a childhood onset with clinical manifestations that include recurrent nephrolithiasis, nephrocalcinosis and end-stage renal disease with subsequent systemic oxalosis."
        },
        {
            "id": "MONDO:0009824",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009824",
            "name": "D-glycerate dehydrogenase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009824",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009824",
            "name": "GRHPR primary hyperoxaluria",
            "description": ""
        },
        {
            "id": "MONDO:0009824",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009824",
            "name": "L-glyceric aciduria",
            "description": ""
        },
        {
            "id": "MONDO:0009824",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009824",
            "name": "primary hyperoxaluria caused by mutation in GRHPR",
            "description": ""
        },
        {
            "id": "MONDO:0009824",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009824",
            "name": "primary hyperoxaluria type 2",
            "description": ""
        },
        {
            "id": "MONDO:0009824",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009824",
            "name": "primary hyperoxaluria type II",
            "description": ""
        },
        {
            "id": "MONDO:0009824",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009824",
            "name": "HP2",
            "description": ""
        },
        {
            "id": "MONDO:0009824",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009824",
            "name": "hyperoxaluria, primary, type II",
            "description": ""
        },
        {
            "id": "MIM:260000",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/260000",
            "name": "Hyperoxaluria primary 2",
            "description": "Hyperoxaluria primary 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111671"
    ],
    "unlinked_id_list": []
}