{
  "id": 10695,
  "label": "benign recurrent intrahepatic cholestasis type 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009469",
  "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."
  },
  "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"
    },
    {
      "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": [],
  "roots": [
    {
      "id": 16519,
      "label": "progressive familial intrahepatic cholestasis"
    },
    {
      "id": 18923,
      "label": "benign recurrent intrahepatic cholestasis"
    }
  ]
}