{
    "disease_id": "DOID:0070222",
    "recommended_name": {
        "id": "DOID:0070222",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070222",
        "name": "progressive familial intrahepatic cholestasis 2",
        "description": "A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ABCB11 gene on chromosome 2q31."
    },
    "synonyms": [
        {
            "id": "DOID:0070222",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070222",
            "name": "BSEP deficiency",
            "description": ""
        },
        {
            "id": "DOID:0070222",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070222",
            "name": "PFIC2",
            "description": ""
        },
        {
            "id": "MONDO:0011156",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011156",
            "name": "progressive familial intrahepatic cholestasis type 2",
            "description": "Progressive familial intrahepatic cholestasis type 2 (PFIC2), a type of progressive familial intrahepatic cholestasis (PFIC), is a severe, neonatal, hereditary disorder in bile formation that is hepatocellular in origin and not associated with extrahepatic features. Initially, PFIC2 was reported under the name Byler syndrome."
        },
        {
            "id": "MONDO:0011156",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011156",
            "name": "ABCB11 progressive familial intrahepatic cholestasis",
            "description": ""
        },
        {
            "id": "MONDO:0011156",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011156",
            "name": "BSEP deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011156",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011156",
            "name": "PFIC2",
            "description": ""
        },
        {
            "id": "MONDO:0011156",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011156",
            "name": "cholestasis, progressive familial intrahepatic 2",
            "description": ""
        },
        {
            "id": "MONDO:0011156",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011156",
            "name": "cholestasis, progressive familial intrahepatic, type 2",
            "description": ""
        },
        {
            "id": "MONDO:0011156",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011156",
            "name": "progressive familial intrahepatic cholestasis caused by mutation in ABCB11",
            "description": ""
        },
        {
            "id": "MONDO:0011156",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011156",
            "name": "progressive familial intrahepatic cholestasis type 2",
            "description": ""
        },
        {
            "id": "MONDO:0011156",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011156",
            "name": "cholestasis, progressive familial intrahepatic, 2",
            "description": ""
        },
        {
            "id": "MONDO:0011156",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011156",
            "name": "severe ABCB11 deficiency",
            "description": ""
        },
        {
            "id": "MIM:601847",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/601847",
            "name": "Cholestasis, progressive familial intrahepatic, 2",
            "description": "Cholestasis, progressive familial intrahepatic, 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070222"
    ],
    "unlinked_id_list": []
}