{
    "disease_id": "DOID:0112258",
    "recommended_name": {
        "id": "DOID:0112258",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0112258",
        "name": "N-acetylglutamate synthase deficiency",
        "description": "A urea cycle disorder characterized by accumulation of ammonia in the blood that has_material_basis_in homozygous or compound heterozygous mutation in the NAGS gene on chromosome 17q21.31."
    },
    "synonyms": [
        {
            "id": "DOID:0112258",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112258",
            "name": "N-acetyl glutamate synthetase deficiency",
            "description": ""
        },
        {
            "id": "DOID:0112258",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112258",
            "name": "N-acetylglutamate synthetase deficiency",
            "description": ""
        },
        {
            "id": "DOID:0112258",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112258",
            "name": "NAG synthetase deficiency",
            "description": ""
        },
        {
            "id": "DOID:0112258",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112258",
            "name": "NAGS deficiency",
            "description": ""
        },
        {
            "id": "DOID:0112258",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112258",
            "name": "hyperammonemia due to N-acetylglutamate synthase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009377",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009377",
            "name": "hyperammonemia due to N-acetylglutamate synthase deficiency",
            "description": "N-acetylglutamate synthase (NAGS) deficiency is a urea cycle disorder leading to hyperammonaemia."
        },
        {
            "id": "MONDO:0009377",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009377",
            "name": "NAGS deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009377",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009377",
            "name": "hyperammonemia due to N-acetylglutamate synthase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009377",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009377",
            "name": "N-acetyl glutamate synthetase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009377",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009377",
            "name": "N-acetylglutamate synthase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009377",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009377",
            "name": "N-acetylglutamate synthetase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009377",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009377",
            "name": "NAG synthetase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009377",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009377",
            "name": "NAGSD",
            "description": ""
        },
        {
            "id": "MONDO:0009377",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009377",
            "name": "Nags deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009377",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009377",
            "name": "hyperammonemia due to N-acetylglutamate synthetase deficiency",
            "description": ""
        },
        {
            "id": "MIM:237310",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/237310",
            "name": "N-acetylglutamate synthase deficiency",
            "description": "N-acetylglutamate synthase deficiency"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112258"
    ],
    "unlinked_id_list": []
}