{
  "id": 17287,
  "label": "Alagille syndrome due to a JAG1 point mutation",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016862",
  "properties": {
    "xrefs": [
      "GARD:0017251",
      "MEDGEN:365434",
      "OMIM:118450",
      "Orphanet:261619",
      "UMLS:C1956125"
    ],
    "synonyms": [
      "Alagille syndrome due to a JAG1 point mutation",
      "Alagille syndrome type 1",
      "Alagille syndrome-JAG1",
      "Alagille-Watson syndrome due to a JAG1 point mutation",
      "arteriohepatic dysplasia due to a JAG1 point mutation",
      "syndromic bile duct paucity due to a JAG1 point mutation",
      "ALGS1",
      "Alagille syndrome 1",
      "Alagille-Watson syndrome",
      "arteriohepatic dysplasia",
      "cholestasis with peripheral pulmonary stenosis",
      "hepatic ductular hypoplasia, syndromatic"
    ],
    "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": "Any Alagille syndrome due to a variation in the JAG1 gene that affects many organ systems including the liver, heart, skeleton, eyes and kidneys."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 2903,
      "label": "autosomal dominant disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050736",
          "ICD9:758.5",
          "MEDGEN:539206",
          "SCTID:11164009",
          "UMLS:C0265385"
        ],
        "synonyms": [
          "autosomal dominant disease or disorder",
          "autosomal dominant hereditary disorder",
          "autosomal dominant inherited disorder",
          "disease or disorder, autosomal dominant",
          "disease, autosomal dominant"
        ],
        "definition": "Autosomal dominant form of disease."
      },
      "child_count": 192,
      "reference_id": "MONDO:0000426"
    },
    {
      "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": 2903,
      "label": "autosomal dominant disease"
    },
    {
      "id": 8716,
      "label": "Alagille syndrome"
    }
  ]
}