{
  "id": 8716,
  "label": "Alagille syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007318",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    },
    {
      "id": 6624,
      "label": "biliary tract disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4586
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:9741",
          "EFO:0009534",
          "ICD9:576.9",
          "MEDGEN:108201",
          "MESH:D001660",
          "SCTID:105997008",
          "UMLS:C0549613"
        ],
        "synonyms": [
          "biliary tree disease",
          "biliary tree disease or disorder",
          "disease of biliary tree",
          "disease or disorder of biliary tree",
          "disorder of biliary tree"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          }
        ],
        "definition": "A disease involving the biliary tree."
      },
      "child_count": 15,
      "reference_id": "MONDO:0004868"
    },
    {
      "id": 7019,
      "label": "eye disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4171,
        21415
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1242",
          "DOID:5614",
          "EFO:0003966",
          "ICD9:360",
          "ICD9:360.29",
          "ICD9:360.89",
          "ICD9:360.9",
          "ICD9:379.8",
          "ICD9:379.90",
          "MEDGEN:5092",
          "MESH:D005128",
          "NCIT:C26767",
          "SCTID:371405004",
          "UMLS:C0015397"
        ],
        "synonyms": [
          "disease of eye",
          "disease of eyeball of camera-type eye",
          "disease or disorder of eyeball of camera-type eye",
          "disorder of eye",
          "disorder of eyeball of camera-type eye",
          "eye disease",
          "eye disorder",
          "eyeball of camera-type eye disease",
          "eyeball of camera-type eye disease or disorder",
          "globe disease",
          "disease of eyeball",
          "disorder of eye proper",
          "disorder of eyeball",
          "disorder of globe"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "A non-neoplastic or neoplastic disorder that affects the eye. Representative examples include conjunctivitis, glaucoma, cataract, conjunctival squamous cell carcinoma, uveal melanoma, and retinoblastoma."
      },
      "child_count": 240,
      "reference_id": "MONDO:0005328"
    },
    {
      "id": 16089,
      "label": "multiple congenital anomalies/dysmorphic syndrome without intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18951
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019833",
          "MEDGEN:1842829",
          "Orphanet:102285",
          "UMLS:C5680373"
        ],
        "synonyms": [
          "MCA without intellectual disability",
          "multiple congenital anomalies without intellectual disability with or without dysmorphism"
        ]
      },
      "child_count": 168,
      "reference_id": "MONDO:0015161"
    },
    {
      "id": 24272,
      "label": "cardiogenetic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6967
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "hereditary heart disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "A heterogeneous group of genetic conditions, with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology that are characterized by abnormalities in the cardiovascular system."
      },
      "child_count": 146,
      "reference_id": "MONDO:0100547"
    }
  ],
  "children": [
    {
      "id": 13489,
      "label": "Alagille syndrome due to a NOTCH2 point mutation",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8716
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012439"
    },
    {
      "id": 17286,
      "label": "Alagille syndrome due to 20p12 microdeletion",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8716,
        17319
      ],
      "type_id": 0,
      "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"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0016861"
    },
    {
      "id": 17287,
      "label": "Alagille syndrome due to a JAG1 point mutation",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2903,
        8716
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0016862"
    }
  ],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 6624,
      "label": "biliary tract disorder"
    },
    {
      "id": 7019,
      "label": "eye disorder"
    },
    {
      "id": 16089,
      "label": "multiple congenital anomalies/dysmorphic syndrome without intellectual disability"
    },
    {
      "id": 24272,
      "label": "cardiogenetic disease"
    }
  ]
}