{
    "disease_id": "DOID:0070340",
    "recommended_name": {
        "id": "DOID:0070340",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070340",
        "name": "classic citrullinemia",
        "description": "A citrullinemia that has_material_basis_in homozygous or compound heterozygous mutation in the ASS1 gene, which encodes argininosuccinate synthetase, on chromosome 9q34."
    },
    "synonyms": [
        {
            "id": "MONDO:0008988",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008988",
            "name": "citrullinemia type I",
            "description": "Citrullinemia type I is a rare autosomal recessive urea cycle defect characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting in the neonatal form (Acute neonatal citrullinemia type I) and by variable hyperammonemia in the later-onset form (adult-onset citrullinemia type I)."
        },
        {
            "id": "MONDO:0008988",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008988",
            "name": "citrullinemia",
            "description": ""
        },
        {
            "id": "MONDO:0008988",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008988",
            "name": "ASS deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008988",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008988",
            "name": "CTLN1",
            "description": ""
        },
        {
            "id": "MONDO:0008988",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008988",
            "name": "argininosuccinate synthase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008988",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008988",
            "name": "argininosuccinate synthetase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008988",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008988",
            "name": "argininosuccinic acid synthase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008988",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008988",
            "name": "argininosuccinic acid synthetase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008988",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008988",
            "name": "citrullinemia type 1",
            "description": ""
        },
        {
            "id": "MONDO:0008988",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008988",
            "name": "citrullinemia type I",
            "description": ""
        },
        {
            "id": "MONDO:0008988",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008988",
            "name": "classic citrullinemia",
            "description": ""
        },
        {
            "id": "MONDO:0008988",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008988",
            "name": "CTNL1",
            "description": ""
        },
        {
            "id": "MONDO:0008988",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008988",
            "name": "citrullinemia 1",
            "description": ""
        },
        {
            "id": "MIM:215700",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/215700",
            "name": "Citrullinemia 1",
            "description": "Citrullinemia 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070340"
    ],
    "unlinked_id_list": []
}