{
  "id": 12655,
  "label": "benign recurrent intrahepatic cholestasis type 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011559",
  "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"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "parents": [
    {
      "id": 18923,
      "label": "benign recurrent intrahepatic cholestasis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17613,
        17982
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070230",
          "GARD:0012185",
          "MEDGEN:57703",
          "OMIMPS:243300",
          "Orphanet:65682",
          "SCTID:31155007",
          "UMLS:C0149841",
          "icd11.foundation:288945286"
        ],
        "synonyms": [
          "BRIC",
          "Bric",
          "Summerskill-Walshe-Tygstrup syndrome",
          "cholestasis, benign recurrent intrahepatic"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Benign recurrent intrahepatic cholestasis (BRIC) is a hereditary liver disorder characterized by intermittent episodes of intrahepatic cholestasis, generally without progression to chronic liver damage. BRIC is now believed to belong to a clinical spectrum of intrahepatic cholestatic disorders that ranges from the mild intermittent attacks in BRIC to the severe, chronic and progressive cholestasis seen in progressive familial intrahepatic cholestasis (PFIC)."
      },
      "child_count": 4,
      "reference_id": "MONDO:0019008"
    }
  ],
  "children": [
    {
      "id": 12278,
      "label": "progressive familial intrahepatic cholestasis type 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        12655,
        16519
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011156"
    }
  ],
  "roots": [
    {
      "id": 18923,
      "label": "benign recurrent intrahepatic cholestasis"
    }
  ]
}