{
    "disease_id": "DOID:0070223",
    "recommended_name": {
        "id": "DOID:0070223",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070223",
        "name": "progressive familial intrahepatic cholestasis 3",
        "description": "A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance of intrahepatic cholestasis and elevated serum GGT1 activity that has_material_basis_in mutation in the ABCB4 gene on chromosome 7q21.12."
    },
    "synonyms": [
        {
            "id": "DOID:0070223",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070223",
            "name": "MDR3 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0070223",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070223",
            "name": "PFIC3",
            "description": ""
        },
        {
            "id": "DOID:0070223",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070223",
            "name": "progressive familial intrahepatic cholestasis with elevated serum gama-glutamyltransferase",
            "description": ""
        },
        {
            "id": "MONDO:0011214",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011214",
            "name": "progressive familial intrahepatic cholestasis type 3",
            "description": "Progressive familial intrahepatic cholestasis type 3 (PFIC3), a type of progressive familial intrahepatic cholestasis (PFIC), is a late-onset hereditary disorder in bile formation that is hepatocellular in origin. Onset may occur from infancy to young adulthood."
        },
        {
            "id": "MONDO:0011214",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011214",
            "name": "ABCB4 progressive familial intrahepatic cholestasis",
            "description": ""
        },
        {
            "id": "MONDO:0011214",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011214",
            "name": "MDR3 Deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011214",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011214",
            "name": "PFIC3",
            "description": ""
        },
        {
            "id": "MONDO:0011214",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011214",
            "name": "cholestasis, progressive familial intrahepatic 3",
            "description": ""
        },
        {
            "id": "MONDO:0011214",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011214",
            "name": "cholestasis, progressive familial intrahepatic, type 3",
            "description": ""
        },
        {
            "id": "MONDO:0011214",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011214",
            "name": "progressive familial intrahepatic cholestasis caused by mutation in ABCB4",
            "description": ""
        },
        {
            "id": "MONDO:0011214",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011214",
            "name": "cholestasis, progressive familial intrahepatic, 3",
            "description": ""
        },
        {
            "id": "MONDO:0011214",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011214",
            "name": "progressive familial intrahepatic cholestasis with elevated serum gamma-glutamyltransferase",
            "description": ""
        },
        {
            "id": "MIM:602347",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/602347",
            "name": "Cholestasis, progressive familial intrahepatic, 3",
            "description": "Cholestasis, progressive familial intrahepatic, 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070223"
    ],
    "unlinked_id_list": []
}