{
  "id": 16519,
  "label": "progressive familial intrahepatic cholestasis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015762",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 16,
  "parents": [
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    },
    {
      "id": 17613,
      "label": "familial intrahepatic cholestasis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6878,
        18954,
        18964
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021119",
          "ICD9:576.8",
          "Orphanet:284385",
          "SCTID:74162007"
        ],
        "synonyms": [
          "hereditary intrahepatic cholestasis"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "An instance of intrahepatic cholestasis that is caused by an inherited modification of the individual's genome."
      },
      "child_count": 12,
      "reference_id": "MONDO:0017290"
    },
    {
      "id": 17982,
      "label": "inborn disorder of bilirubin metabolism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17981,
        21409
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021347",
          "MEDGEN:1671515",
          "Orphanet:309816",
          "UMLS:C0349427",
          "icd11.foundation:1297666279"
        ],
        "synonyms": [
          "disorder of bilirubin metabolism",
          "disorder of bilirubin metabolism and excretion",
          "hereditary bilirubin metabolism disease",
          "inborn disorder of bilirubin metabolism and excretion",
          "bilirubin metabolism disorder"
        ],
        "definition": "An instance of bilirubin metabolism disease that is caused by an inherited modification of the individual's genome."
      },
      "child_count": 10,
      "reference_id": "MONDO:0017755"
    }
  ],
  "children": [
    {
      "id": 10157,
      "label": "progressive familial intrahepatic cholestasis type 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16519
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008892"
    },
    {
      "id": 10695,
      "label": "benign recurrent intrahepatic cholestasis type 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16519,
        18923
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070231",
          "GARD:0010028",
          "MEDGEN:1637492",
          "OMIM:243300",
          "Orphanet:99960",
          "UMLS:C4551899"
        ],
        "synonyms": [
          "cholestasis, benign recurrent intrahepatic",
          "ATP8B1 benign recurrent intrahepatic cholestasis",
          "BRIC1",
          "Bric type 1",
          "benign recurrent intrahepatic cholestasis caused by mutation in ATP8B1",
          "cholestasis, benign recurrent intrahepatic, type 1",
          "Summerskill syndrome",
          "benign recurrent intrahepatic cholestasis 1",
          "cholestasis, benign recurrent intrahepatic 1",
          "cholestasis, benign recurrent intrahepatic, 1",
          "mild ATP8B1 deficiency",
          "recurrent familial intrahepatic cholestasis 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Benign recurrent intrahepatic cholestasis 1 (BRIC1) is characterized by episodes of liver dysfunction called cholestasis, during which the liver cells have a reduced ability to release a digestive fluid called bile. These episodes can last from weeks to months, and the time between them, during which there are usually no symptoms, can vary from weeks to years.Most people with BRIC1have their first episode of cholestasisintheir teens or twenties. Symptoms oftenpresent with severe itchiness, followed by yellowing of the skin and whites of the eyes (jaundice) a few weeks later. BRIC1 is caused by mutations in the ATP8B1 gene. This condition is inherited in an autosomal recessive pattern.BRIC1generally does not cause lasting damage to the liver. However, in rare cases, episodes of liver dysfunction may develop into a more severe, permanent form of liver disease known as progressive familial intrahepatic cholestasis (PFIC). BRIC and PFIC are sometimes considered to be part of a spectrum of intrahepatic cholestasis disorders of varying severity."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009469"
    },
    {
      "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"
    },
    {
      "id": 12335,
      "label": "progressive familial intrahepatic cholestasis type 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16519
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011214"
    },
    {
      "id": 12598,
      "label": "hereditary North American Indian childhood cirrhosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16519
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017037",
          "MEDGEN:387974",
          "MESH:C565737",
          "OMIM:604901",
          "Orphanet:168583",
          "SCTID:699189004",
          "UMLS:C1858051",
          "icd11.foundation:1992710077"
        ],
        "synonyms": [
          "NAIC",
          "NORTH American Indian childhood cirrhosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Hereditary North American Indian childhood cirrhosis is a severe autosomal recessive intrahepatic cholestasis that has only been described in aboriginal children from northwestern Quebec. Manifesting first as transient neonatal jaundice, the disease evolves into periportal fibrosis and cirrhosis during a period ranging from childhood to adolescence."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011497"
    },
    {
      "id": 15383,
      "label": "cholestasis, progressive familial intrahepatic, 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16519
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014381"
    },
    {
      "id": 15865,
      "label": "cholestasis, progressive familial intrahepatic, 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16519
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070225",
          "GARD:0017867",
          "MEDGEN:934714",
          "NANDO:1201047",
          "OMIM:617049",
          "Orphanet:480476",
          "UMLS:C4310747"
        ],
        "synonyms": [
          "NR1H4 deficiency",
          "NR1H4 progressive familial intrahepatic cholestasis",
          "PFIC5",
          "cholestasis, progressive familial intrahepatic, 5",
          "cholestasis, progressive familial intrahepatic, 5; PFIC5",
          "cholestasis, progressive familial intrahepatic, type 5",
          "progressive familial intrahepatic cholestasis caused by mutation in NR1H4"
        ],
        "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 NR1H4 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014884"
    },
    {
      "id": 18749,
      "label": "MYO5B-related progressive familial intrahepatic cholestasis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16519
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021972",
          "MEDGEN:1826070",
          "Orphanet:480491",
          "UMLS:C5680100"
        ],
        "synonyms": [
          "MYO5B deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0018804"
    },
    {
      "id": 21901,
      "label": "cholestasis, progressive familial intrahepatic, 6",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16519
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025551",
          "MEDGEN:1794175",
          "OMIM:619484",
          "UMLS:C5561965"
        ],
        "synonyms": [
          "PFIC6",
          "cholestasis, progressive familial intrahepatic, 6"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030360"
    },
    {
      "id": 21952,
      "label": "cholestasis, progressive familial intrahepatic, 7, with or without hearing loss",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16519
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025583",
          "MEDGEN:1794253",
          "OMIM:619658",
          "UMLS:C5562043"
        ],
        "synonyms": [
          "PFIC7"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030503"
    },
    {
      "id": 21953,
      "label": "cholestasis, progressive familial intrahepatic, 8",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16519
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025584",
          "MEDGEN:1794255",
          "OMIM:619662",
          "UMLS:C5562045"
        ],
        "synonyms": [
          "PFIC8"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030505"
    },
    {
      "id": 22048,
      "label": "cholestasis, progressive familial intrahepatic, 9",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16519
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025639",
          "MEDGEN:1809292",
          "OMIM:619849",
          "UMLS:C5676973"
        ],
        "synonyms": [
          "PFIC9",
          "cholestasis, progressive familial intrahepatic, 9"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030800"
    },
    {
      "id": 22052,
      "label": "cholestasis, progressive familial intrahepatic, 10",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16519
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025641",
          "MEDGEN:1807702",
          "OMIM:619868",
          "UMLS:C5676981"
        ],
        "synonyms": [
          "PFIC10",
          "cholestasis, progressive familial intrahepatic, 10"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030810"
    },
    {
      "id": 22054,
      "label": "cholestasis, progressive familial intrahepatic, 11",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16519
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025642",
          "MEDGEN:1807308",
          "OMIM:619874",
          "UMLS:C5676985"
        ],
        "synonyms": [
          "PFIC11",
          "cholestasis, progressive familial intrahepatic, 11"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030815"
    },
    {
      "id": 22205,
      "label": "cholestasis, progressive familial intrahepatic, 12",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16519
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025680",
          "MEDGEN:1824084",
          "OMIM:620010",
          "UMLS:C5774311"
        ],
        "synonyms": [
          "PFIC12",
          "cholestasis, isolated low-ggt",
          "cholestasis, progressive familial intrahepatic, 12"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0031040"
    },
    {
      "id": 26113,
      "label": "cholestasis, progressive familial intrahepatic, 13",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16519
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027320",
          "MEDGEN:1874952",
          "OMIM:620962",
          "UMLS:C5975422"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0975807"
    }
  ],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 17613,
      "label": "familial intrahepatic cholestasis"
    },
    {
      "id": 17982,
      "label": "inborn disorder of bilirubin metabolism"
    }
  ]
}