{
  "id": 12335,
  "label": "progressive familial intrahepatic cholestasis type 3",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011214",
  "properties": {
    "xrefs": [
      "DOID:0070223",
      "GARD:0001289",
      "MEDGEN:356333",
      "MESH:C535935",
      "NANDO:1201045",
      "NORD:1416",
      "OMIM:602347",
      "Orphanet:79305",
      "UMLS:C1865643",
      "icd11.foundation:1276600959"
    ],
    "synonyms": [
      "ABCB4 progressive familial intrahepatic cholestasis",
      "MDR3 Deficiency",
      "PFIC3",
      "cholestasis, progressive familial intrahepatic 3",
      "cholestasis, progressive familial intrahepatic, type 3",
      "progressive familial intrahepatic cholestasis caused by mutation in ABCB4",
      "Mdr3 deficiency",
      "cholestasis, progressive familial intrahepatic, 3",
      "cholestasis, progressive familial intrahepatic, with elevated serum gamma-glutamyltransferase",
      "progressive familial intrahepatic cholestasis with elevated serum gamma-glutamyltransferase"
    ],
    "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 3 (PFIC3), a type of progressive familial intrahepatic cholestasis (PFIC), is a late-onset hereditary disorder in bile formation that is hepatocellular in origin. Onset may occur from infancy to young adulthood."
  },
  "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"
    }
  ]
}