{
    "disease_id": "DOID:0070226",
    "recommended_name": {
        "id": "DOID:0070226",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070226",
        "name": "progressive familial intrahepatic cholestasis 1",
        "description": "A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ATP8B1 gene on chromosome 18q21."
    },
    "synonyms": [
        {
            "id": "DOID:0070226",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070226",
            "name": "FIC1 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0070226",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070226",
            "name": "PFIC1",
            "description": ""
        },
        {
            "id": "MONDO:0008892",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008892",
            "name": "progressive familial intrahepatic cholestasis type 1",
            "description": "PFIC1, a type of progressive familial intrahepathic cholestasis (PFIC), is an infantile hereditary disorder in bile formation that is hepatocellular in origin and associated with extrahepatic features."
        },
        {
            "id": "MONDO:0008892",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008892",
            "name": "Byler disease",
            "description": ""
        },
        {
            "id": "MONDO:0008892",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008892",
            "name": "FIC1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008892",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008892",
            "name": "PFIC1",
            "description": ""
        },
        {
            "id": "MONDO:0008892",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008892",
            "name": "cholestasis, progressive familial intrahepatic 1",
            "description": ""
        },
        {
            "id": "MONDO:0008892",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008892",
            "name": "cholestasis, progressive familial intrahepatic, type 1",
            "description": ""
        },
        {
            "id": "MONDO:0008892",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008892",
            "name": "Byler's disease",
            "description": ""
        },
        {
            "id": "MONDO:0008892",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008892",
            "name": "cholestasis, fatal intrahepatic",
            "description": ""
        },
        {
            "id": "MONDO:0008892",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008892",
            "name": "cholestasis, progressive familial intrahepatic, 1",
            "description": ""
        },
        {
            "id": "MONDO:0008892",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008892",
            "name": "progressive familial intrahepatic cholestasis",
            "description": ""
        },
        {
            "id": "MONDO:0008892",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008892",
            "name": "severe ATP8B1 deficiency",
            "description": ""
        },
        {
            "id": "MIM:211600",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/211600",
            "name": "Cholestasis, progressive familial intrahepatic, 1",
            "description": "Cholestasis, progressive familial intrahepatic, 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070226"
    ],
    "unlinked_id_list": []
}