{
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011601", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011601", 
            "name": "neonatal intrahepatic cholestasis due to citrin deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011601", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011601", 
            "name": "neonatal-onset citrullinemia type II"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011601", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011601", 
            "name": "neonatal intrahepatic cholestasis caused by citrin deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011601", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011601", 
            "name": "NICCD"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011601", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011601", 
            "name": "cholestasis, neonatal intrahepatic, caused by citrin deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011601", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011601", 
            "name": "neonatal-onset citrullinemia type 2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011601", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011601", 
            "name": "citrullinemia, type II, neonatal-onset"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011601", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011601", 
            "name": "citrullinemia, type II, neonatal-onset, with or without failure to thrive and dyslipidemia"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0070341", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0070341", 
            "name": "neonatal-onset type 2 citrullinemia"
        }, 
        {
            "url": "https://www.omim.org/entry/605814", 
            "description": "", 
            "resource": "MIM", 
            "id": "MIM:605814", 
            "name": "Cholestasis, neonatal intrahepatic, caused by citrin deficiency"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0070341", 
        "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.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0070341", 
        "name": "neonatal-onset type II citrullinemia"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/605814", 
            "id": "605814", 
            "database": "MIM"
        }
    ]
}