{
    "disease_id": "DOID:0112180",
    "recommended_name": {
        "id": "DOID:0112180",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112180",
        "name": "urocanase deficiency",
        "description": "A histidine metabolism disease characterized by urocanic aciduria and other variable manifestations including intellectual disability and intermittent ataxia that has_material_basis_in mutation homozygous or compound heterozygous in the UROC1 gene on chromosome 3q21.3."
    },
    "synonyms": [
        {
            "id": "DOID:0112180",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112180",
            "name": "UROCD",
            "description": ""
        },
        {
            "id": "DOID:0112180",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112180",
            "name": "encephalopathy due to urocanase deficiency",
            "description": ""
        },
        {
            "id": "DOID:0112180",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112180",
            "name": "high urine urocanic acid levels",
            "description": ""
        },
        {
            "id": "DOID:0112180",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112180",
            "name": "urocanate hydratase deficiency",
            "description": ""
        },
        {
            "id": "DOID:0112180",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112180",
            "name": "urocanic aciduria",
            "description": ""
        },
        {
            "id": "MONDO:0010167",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010167",
            "name": "urocanic aciduria",
            "description": "Encephalopathy due to urocanase deficiency is an extremely rare histidine metabolism disorder characterized by urocanic aciduria and other variable manifestations including intellectual deficit and intermittent ataxia in the 4 cases reported to date."
        },
        {
            "id": "MONDO:0010167",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010167",
            "name": "encephalopathy due to urocanase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010167",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010167",
            "name": "urocanic aciduria",
            "description": ""
        },
        {
            "id": "MONDO:0010167",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010167",
            "name": "urocanic aciduria (disease)",
            "description": ""
        },
        {
            "id": "MONDO:0010167",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010167",
            "name": "UROCD",
            "description": ""
        },
        {
            "id": "MONDO:0010167",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010167",
            "name": "urocanase deficiency",
            "description": ""
        },
        {
            "id": "MIM:276880",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/276880",
            "name": "Urocanase deficiency",
            "description": "Urocanase deficiency"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112180"
    ],
    "unlinked_id_list": []
}