{
  "id": 17613,
  "label": "familial intrahepatic cholestasis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017290",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "parents": [
    {
      "id": 6878,
      "label": "liver disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4586,
        6875
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:409",
          "EFO:0001421",
          "ICD10CM:K70-K77",
          "ICD9:573.8",
          "ICD9:573.9",
          "MEDGEN:893061",
          "MESH:D008107",
          "NCIT:C3196",
          "SCTID:235856003",
          "UMLS:C4021780",
          "icd11.foundation:1784240230"
        ],
        "synonyms": [
          "disease of liver",
          "disease or disorder of liver",
          "disorder of liver",
          "hepatic disease",
          "hepatic disorder",
          "liver and intrahepatic bile duct disorder",
          "liver disease",
          "liver disease or disorder",
          "liver disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "A disease involving the liver."
      },
      "child_count": 64,
      "reference_id": "MONDO:0005154"
    },
    {
      "id": 18954,
      "label": "inborn errors of metabolism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6795
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:655",
          "GARD:0022508",
          "MEDGEN:6323",
          "MESH:D008661",
          "MedDRA:10058097",
          "MedDRA:10062018",
          "NANDO:2100159",
          "NCIT:C34816",
          "Orphanet:68367",
          "SCTID:86095007",
          "UMLS:C0025521",
          "icd11.foundation:733825440"
        ],
        "synonyms": [
          "congenital metabolic disorder",
          "congenital metabolism disorder",
          "hereditary metabolic disease",
          "inborn disorders of metabolism",
          "inborn error of metabolism",
          "inborn errors of metabolism",
          "inborn metabolic disorder",
          "inherited disorder of metabolism",
          "inherited disorders of metabolism",
          "inherited metabolic disorder",
          "rare inborn errors of metabolism",
          "rare inherited metabolic disorder",
          "rare metabolic disease"
        ],
        "definition": "An inherited disorder resulting from an enzyme defect in biochemical and metabolic pathways affecting proteins, fats, carbohydrates metabolism or organelle function."
      },
      "child_count": 186,
      "reference_id": "MONDO:0019052"
    },
    {
      "id": 18964,
      "label": "intrahepatic cholestasis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3937
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1852",
          "MEDGEN:3042",
          "MESH:D002780",
          "SCTID:235888006",
          "UMLS:C0008372"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          }
        ],
        "definition": "A cholestasis characterized by impairment of the bile flow caused by obstruction located in the liver."
      },
      "child_count": 2,
      "reference_id": "MONDO:0019072"
    }
  ],
  "children": [
    {
      "id": 9165,
      "label": "cholestasis, intrahepatic, of pregnancy, 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17613,
        24156
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070228",
          "GARD:0015079",
          "MEDGEN:762759",
          "OMIM:147480",
          "UMLS:C3549845"
        ],
        "synonyms": [
          "cholestasis, intrahepatic, of pregnancy, 1",
          "cholestasis, intrahepatic, of pregnancy, type 1",
          "ICP1",
          "cholestasis, pregnancy-related, 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0007829"
    },
    {
      "id": 15005,
      "label": "cholestasis, intrahepatic, of pregnancy, 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17613,
        24156
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070229",
          "GARD:0015888",
          "MEDGEN:767155",
          "OMIM:614972",
          "UMLS:C3554241"
        ],
        "synonyms": [
          "cholestasis, intrahepatic, of pregnancy 3",
          "cholestasis, intrahepatic, of pregnancy type 3",
          "ICP3"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0013995"
    },
    {
      "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"
    },
    {
      "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"
    }
  ],
  "roots": [
    {
      "id": 6878,
      "label": "liver disorder"
    },
    {
      "id": 18954,
      "label": "inborn errors of metabolism"
    },
    {
      "id": 18964,
      "label": "intrahepatic cholestasis"
    }
  ]
}