{
    "disease_id": "DOID:0070341",
    "recommended_name": {
        "id": "DOID:0070341",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0070341",
        "name": "neonatal-onset type II citrullinemia",
        "description": "A citrullinemia that is characterized by confusion, restlessness, memory loss, abnormal behaviors (such as aggression, irritability, and hyperactivity), seizures and coma, caused by citrin deficiency (NICCD), and has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A13 gene."
    },
    "synonyms": [
        {
            "id": "DOID:0070341",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070341",
            "name": "neonatal-onset type 2 citrullinemia",
            "description": ""
        },
        {
            "id": "MONDO:0011601",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011601",
            "name": "neonatal intrahepatic cholestasis due to citrin deficiency",
            "description": "Neonatal intrahepatic cholestasis due to citrin deficiency is a mild subtype of citrin deficiency (see this term) characterized clinically by low birth weight, failure to thrive, transient intrahepatic cholestasis, multiple aminoacidemia, galactosemia, hypoproteinemia, hepatomegaly, decreased coagulation factors, hemolytic anemia, variable but mostly mild liver dysfunction, and hypoglycemia."
        },
        {
            "id": "MONDO:0011601",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011601",
            "name": "neonatal-onset citrullinemia type II",
            "description": ""
        },
        {
            "id": "MONDO:0011601",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011601",
            "name": "neonatal intrahepatic cholestasis caused by citrin deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011601",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011601",
            "name": "NICCD",
            "description": ""
        },
        {
            "id": "MONDO:0011601",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011601",
            "name": "cholestasis, neonatal intrahepatic, caused by citrin deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011601",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011601",
            "name": "neonatal-onset citrullinemia type 2",
            "description": ""
        },
        {
            "id": "MONDO:0011601",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011601",
            "name": "citrullinemia, type II, neonatal-onset",
            "description": ""
        },
        {
            "id": "MONDO:0011601",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011601",
            "name": "citrullinemia, type II, neonatal-onset, with or without failure to thrive and dyslipidemia",
            "description": ""
        },
        {
            "id": "MIM:605814",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/605814",
            "name": "Cholestasis, neonatal intrahepatic, caused by citrin deficiency",
            "description": "Cholestasis, neonatal intrahepatic, caused by citrin deficiency"
        }
    ]
}