{
  "id": 13489,
  "label": "Alagille syndrome due to a NOTCH2 point mutation",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012439",
  "properties": {
    "xrefs": [
      "GARD:0017252",
      "MEDGEN:341844",
      "OMIM:610205",
      "Orphanet:261629",
      "UMLS:C1857761"
    ],
    "synonyms": [
      "Alagille syndrome due to a NOTCH2 point mutation",
      "Alagille syndrome type 2",
      "Alagille syndrome-NOTCH2",
      "Alagille-Watson syndrome due to a NOTCH2 point mutation",
      "Arteriohepatic dysplasia due to a NOTCH2 point mutation",
      "syndromic bile duct paucity due to a NOTCH2 point mutation",
      "ALGS2",
      "Alagille syndrome 2"
    ],
    "categories": [
      {
        "ref": "MONDO:0002022",
        "name": "disorder of orbital region"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0004335",
        "name": "digestive system disorder"
      },
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ],
    "definition": "A genetic condition caused by pathogenic variants in the NOTCH2 gene upstream of those implicated with Hajdu-Cheney syndrome. The mechanism of pathogenicity for Alagille syndrome appears to be haploinsufficiency. Key features include bile duct paucity, cholestasis, congenital heart defects, butterfly vertebrae, posterior embryotoxon, and distinctive facial characteristics. Renal abnormalities may also be present."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 8716,
      "label": "Alagille syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        6624,
        7019,
        16089,
        24272
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:9245",
          "GARD:0000804",
          "ICD9:759.89",
          "MEDGEN:39014",
          "MESH:D016738",
          "MedDRA:10053870",
          "NANDO:1200918",
          "NANDO:1200919",
          "NANDO:2200931",
          "NCIT:C35139",
          "NORD:748",
          "OMIMPS:118450",
          "Orphanet:52",
          "SCTID:31742004",
          "UMLS:C0085280",
          "icd11.foundation:1249656206"
        ],
        "synonyms": [
          "Alagille syndrome",
          "Alagille-Watson syndrome",
          "Arteriohepatic dysplasia",
          "syndromic bile duct paucity",
          "Cardiovertebral syndrome",
          "Hepatofacioneurocardiovertebral syndrome",
          "Watson Alagille syndrome",
          "Watson-Miller syndrome",
          "hepatic ductular hypoplasia",
          "paucity of interlobular bile ducts"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Alagille (AGS) syndrome is variably characterized by chronic cholestasis due to paucity of intrahepatic bile ducts, peripheral pulmonary artery stenosis, vertebrae segmentation anomalies, characteristic facies, posterior embryotoxon/anterior segment abnormalities, pigmentary retinopathy, and dysplastic kidneys."
      },
      "child_count": 15,
      "reference_id": "MONDO:0007318"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 8716,
      "label": "Alagille syndrome"
    }
  ]
}