{
  "id": 17286,
  "label": "Alagille syndrome due to 20p12 microdeletion",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016861",
  "properties": {
    "xrefs": [
      "GARD:0017250",
      "MEDGEN:1826025",
      "Orphanet:261600",
      "UMLS:C5679679"
    ],
    "synonyms": [
      "Alagille syndrome due to del(20)(p12)",
      "Alagille syndrome due to monosomy 20p12",
      "Alagille-Watson syndrome due to monosomy 20p12",
      "Arteriohepatic dysplasia due to monosomy 20p12",
      "syndromic bile duct paucity due to monosomy 20p12"
    ],
    "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"
      }
    ]
  },
  "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"
    },
    {
      "id": 17319,
      "label": "partial monosomy of the short arm of chromosome 20",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17307
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:1826023",
          "MESH:C535370",
          "Orphanet:261992",
          "UMLS:C5679673",
          "icd11.foundation:274545745"
        ],
        "synonyms": [
          "Pure partial 20p deletion",
          "partial deletion of chromosome 20p",
          "partial deletion of the short arm of chromosome 20",
          "partial monosomy of chromosome 20p",
          "partial monosomy of the short arm of chromosome type 20",
          "20p deletion",
          "20p monosomy",
          "chromosome 20p deletion",
          "deletion 20p",
          "monosomy 20p",
          "partial monosomy 20p"
        ]
      },
      "child_count": 3,
      "reference_id": "MONDO:0016898"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 8716,
      "label": "Alagille syndrome"
    },
    {
      "id": 17319,
      "label": "partial monosomy of the short arm of chromosome 20"
    }
  ]
}