{
  "id": 9953,
  "label": "Williams syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008678",
  "properties": {
    "xrefs": [
      "DECIPHER:3",
      "DOID:1928",
      "GARD:0007891",
      "ICD10CM:Q93.82",
      "ICD9:759.89",
      "MEDGEN:59799",
      "MESH:D018980",
      "MedDRA:10049644",
      "NANDO:1200664",
      "NANDO:2200286",
      "NCIT:C85232",
      "NORD:1854",
      "OMIM:194050",
      "Orphanet:904",
      "SCTID:63247009",
      "UMLS:C0175702"
    ],
    "synonyms": [
      "Williams syndrome",
      "Williams-Beuren syndrome",
      "Williams-Beuren syndrome (WBS)",
      "deletion 7q11.23",
      "monosomy 7q11.23",
      "WBS",
      "WMS",
      "chromosome 7Q11.23 deletion syndrome, 1.5- to 1.8-Mb"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity)"
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "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": 17325,
      "label": "partial deletion of the long arm of chromosome 7",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17297
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:1825969",
          "NCIT:C36408",
          "Orphanet:262056",
          "UMLS:C5679676",
          "icd11.foundation:1458081087"
        ],
        "synonyms": [
          "partial deletion of chromosome 7q",
          "partial deletion of the long arm of chromosome type 7",
          "partial monosomy of chromosome 7q",
          "partial monosomy of the long arm of chromosome 7",
          "7q deletion",
          "7q monosomy",
          "del(7q)",
          "deletion 7q",
          "loss of chromosome 7q",
          "monosomy 7q",
          "partial monosomy 7q"
        ],
        "definition": "Chromosome 7q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 7. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 7q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person."
      },
      "child_count": 4,
      "reference_id": "MONDO:0016906"
    },
    {
      "id": 24488,
      "label": "neurodevelopmental disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6799
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "EFO:0010642",
          "MEDGEN:453059",
          "MESH:D065886",
          "MedDRA:10064062",
          "NCIT:C89338",
          "SCTID:700364009",
          "UMLS:C1535926"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A behavioral and cognitive disorder with onset during the developmental period that involves impaired or aberrant development of intellectual, motor, or social functions."
      },
      "child_count": 18,
      "reference_id": "MONDO:0700092"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 17325,
      "label": "partial deletion of the long arm of chromosome 7"
    },
    {
      "id": 24488,
      "label": "neurodevelopmental disorder"
    }
  ]
}