{
    "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 characterized by poor growth, intrahepatic cholestasis, and increased serum citrulline that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A13 gene on chromosome 7q21."
    },
    "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 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": "NICCD",
            "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": "neonatal intrahepatic cholestasis due to citrin deficiency",
            "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": "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 dyslipidaemia",
            "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": "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": "neonatal-onset citrullinemia type II",
            "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"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070341"
    ],
    "unlinked_id_list": []
}