{
    "disease_id": "DOID:0070221",
    "recommended_name": {
        "id": "DOID:0070221",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0070221",
        "name": "progressive familial intrahepatic cholestasis",
        "description": "An intrahepatic cholestasis characterized by early onset of chronic unremitting cholestasis of hepatocellular origin that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood."
    },
    "synonyms": [
        {
            "id": "DOID:0070221",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070221",
            "name": "PFIC; Byler disease",
            "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, see this term), 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": "cholestasis, progressive familial intrahepatic, 1",
            "description": ""
        },
        {
            "id": "MONDO:0008892",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008892",
            "name": "severe ATP8B1 deficiency",
            "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": "Byler disease",
            "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; PFIC1",
            "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": "FIC1 deficiency",
            "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, progressive familial intrahepatic, type 1",
            "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"
        }
    ]
}