{
  "id": 10157,
  "label": "progressive familial intrahepatic cholestasis type 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008892",
  "properties": {
    "xrefs": [
      "DOID:0070226",
      "GARD:0009802",
      "MEDGEN:1645830",
      "NANDO:1201043",
      "OMIM:211600",
      "Orphanet:79306",
      "UMLS:C4551898",
      "icd11.foundation:1414850183"
    ],
    "synonyms": [
      "Byler disease",
      "FIC1 deficiency",
      "PFIC1",
      "cholestasis, progressive familial intrahepatic 1",
      "cholestasis, progressive familial intrahepatic, type 1",
      "Byler's disease",
      "cholestasis, fatal intrahepatic",
      "cholestasis, progressive familial intrahepatic, 1",
      "progressive familial intrahepatic cholestasis",
      "severe ATP8B1 deficiency"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0004335",
        "name": "digestive system disorder"
      },
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ],
    "definition": "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16519,
      "label": "progressive familial intrahepatic cholestasis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        17613,
        17982
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070221",
          "GARD:0015255",
          "MEDGEN:75668",
          "NANDO:1201042",
          "NANDO:2200933",
          "NCIT:C84453",
          "OMIMPS:211600",
          "Orphanet:172",
          "UMLS:C0268312",
          "icd11.foundation:1457142642"
        ],
        "synonyms": [
          "PFIC",
          "cholestasis, progressive familial intrahepatic"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin."
      },
      "child_count": 48,
      "reference_id": "MONDO:0015762"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16519,
      "label": "progressive familial intrahepatic cholestasis"
    }
  ]
}