{
  "id": 18760,
  "label": "isolated neonatal sclerosing cholangitis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018816",
  "properties": {
    "xrefs": [
      "GARD:0021983",
      "MEDGEN:1393230",
      "OMIM:617394",
      "Orphanet:480556",
      "UMLS:C4479344"
    ],
    "synonyms": [
      "NSC",
      "sclerosing cholangitis, neonatal"
    ],
    "categories": [
      {
        "ref": "MONDO:0004335",
        "name": "digestive system disorder"
      },
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ],
    "definition": "Isolated neonatal sclerosing cholangitis is a rare, genetic, biliary tract disease characterized by severe neonatal-onset cholangiopathy with patent bile ducts and absence of ichthyosiform skin lesions. Patients present with jaundice, acholic stools, hepatosplenomegaly and high serum gamma-glutamyltransferase activity. Liver histology shows portal fibrosis, ductular proliferation, hepatocellular metallothionein deposits, and intralobular bile-pigment accumulations. Some patients may also have renal disease."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 5714,
      "label": "hereditary disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29382
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:630",
          "EFO:0000508",
          "ICD9:799.89",
          "MEDGEN:5527",
          "MESH:D030342",
          "NCIT:C3101",
          "SCTID:32895009",
          "UMLS:C0019247"
        ],
        "synonyms": [
          "genetic condition",
          "genetic disease",
          "genetic disorder",
          "hereditary disease",
          "hereditary disease or disorder",
          "hereditary diseases",
          "inherited disease",
          "inherited genetic disease",
          "molecular disease",
          "Mendelian disease",
          "familial disorder",
          "inborn disorder"
        ],
        "definition": "A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome."
      },
      "child_count": 1925,
      "reference_id": "MONDO:0003847"
    },
    {
      "id": 18642,
      "label": "sclerosing cholangitis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6556
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:14268",
          "EFO:0004268",
          "GARD:0021868",
          "HP:0030991",
          "MEDGEN:3036",
          "NANDO:1200440",
          "NANDO:2100265",
          "NCIT:C4828",
          "Orphanet:447771",
          "SCTID:235917005",
          "UMLS:C0008313"
        ],
        "synonyms": [
          "Primary sclerosing cholangitis",
          "primary sclerosing cholangitis (PSC)",
          "sclerosing cholangitis",
          "sclerosing cholangitis (disease)"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "A chronic, autoimmune inflammatory liver disorder characterized by narrowing and scarring of the lumen of the bile ducts. It is often seen in patients with ulcerative colitis. Signs and symptoms include jaundice, fatigue, and malabsorption. It may lead to cirrhosis and liver failure."
      },
      "child_count": 5,
      "reference_id": "MONDO:0018646"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 5714,
      "label": "hereditary disease"
    },
    {
      "id": 18642,
      "label": "sclerosing cholangitis"
    }
  ]
}