{
  "id": 12278,
  "label": "progressive familial intrahepatic cholestasis type 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011156",
  "properties": {
    "xrefs": [
      "DOID:0070222",
      "GARD:0001288",
      "MEDGEN:483742",
      "NANDO:1201044",
      "OMIM:601847",
      "Orphanet:79304",
      "UMLS:C3489789",
      "icd11.foundation:1168921980"
    ],
    "synonyms": [
      "ABCB11 progressive familial intrahepatic cholestasis",
      "BSEP deficiency",
      "PFIC2",
      "cholestasis, progressive familial intrahepatic 2",
      "cholestasis, progressive familial intrahepatic, type 2",
      "progressive familial intrahepatic cholestasis caused by mutation in ABCB11",
      "progressive familial intrahepatic cholestasis type 2",
      "cholestasis, progressive familial intrahepatic, 2",
      "severe ABCB11 deficiency"
    ],
    "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 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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 12655,
      "label": "benign recurrent intrahepatic cholestasis type 2",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18923
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070232",
          "GARD:0010029",
          "MEDGEN:435857",
          "MESH:C535934",
          "OMIM:605479",
          "Orphanet:99961",
          "UMLS:C2608083"
        ],
        "synonyms": [
          "BRIC2",
          "Bric type 2",
          "cholestasis, benign recurrent intrahepatic, type 2",
          "benign recurrent intrahepatic cholestasis 2",
          "cholestasis, benign recurrent intrahepatic 2",
          "cholestasis, benign recurrent intrahepatic, 2",
          "mild ABCB11 deficiency",
          "recurrent familial intrahepatic cholestasis 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 1,
      "reference_id": "MONDO:0011559"
    },
    {
      "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": 12655,
      "label": "benign recurrent intrahepatic cholestasis type 2"
    },
    {
      "id": 16519,
      "label": "progressive familial intrahepatic cholestasis"
    }
  ]
}