{
  "id": 12598,
  "label": "hereditary North American Indian childhood cirrhosis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011497",
  "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."
  },
  "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"
    }
  ]
}