{
  "id": 15383,
  "label": "cholestasis, progressive familial intrahepatic, 4",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014381",
  "properties": {
    "xrefs": [
      "DOID:0070224",
      "GARD:0009803",
      "MEDGEN:418976",
      "NANDO:1201046",
      "OMIM:615878",
      "Orphanet:480483",
      "UMLS:C2931067"
    ],
    "synonyms": [
      "PFIC4",
      "TJP2 deficit",
      "TJP2 progressive familial intrahepatic cholestasis",
      "cholestasis, progressive familial intrahepatic, 4",
      "cholestasis, progressive familial intrahepatic, type 4",
      "progressive familial intrahepatic cholestasis caused by mutation in TJP2",
      "progressive familial intrahepatic cholestasis type 4",
      "cholestasis, progressive familial intrahepatic 4",
      "progressive familial intrahepatic cholestasis 4"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0004335",
        "name": "digestive system disorder"
      },
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ],
    "definition": "Any progressive familial intrahepatic cholestasis in which the cause of the disease is a mutation in the TJP2 gene."
  },
  "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"
    }
  ]
}