{
  "id": 11380,
  "label": "white forelock with malformations",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010199",
  "properties": {
    "xrefs": [
      "GARD:0010081",
      "MEDGEN:376362",
      "MESH:C536700",
      "OMIM:277740",
      "Orphanet:2475",
      "SCTID:763619009",
      "UMLS:C1848463"
    ],
    "synonyms": [
      "white forelock with malformations"
    ],
    "categories": [
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      }
    ],
    "definition": "White forelock with malformations is a multiple congenital anomalies syndrome characterized by poliosis, distinct facial features (epicanthal folds, hypertelorism, posterior rotation of ears, prominent philtrum, high-arched palate) and congenital anomalies/malformations of the eye (blue sclera), cardiopulmonary (atrial septal defect, prominent thoracic and abdominal veins), and skeletal (clinodactyly, syndactyly of the fingers and 2nd and 3rd toes) systems. There have been no further descriptions in the literature since 1980."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 6967,
      "label": "heart disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6736
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:114",
          "EFO:0003777",
          "ICD9:429.89",
          "ICD9:429.9",
          "ICD9:V47.2",
          "MEDGEN:5458",
          "MESH:D006331",
          "NCIT:C3079",
          "SCTID:56265001",
          "UMLS:C0018799",
          "icd11.foundation:1512587470"
        ],
        "synonyms": [
          "cardiac disease",
          "disease of heart",
          "disease or disorder of heart",
          "disorder of heart",
          "disorder of heart/pericardium",
          "heart disease",
          "heart disease or disorder",
          "heart disorder",
          "heart trouble",
          "heart/pericardial disease",
          "heart/pericardial disease or disorder",
          "heart/pericardial disorder",
          "heart/pericardial trouble"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "A disease involving the heart and/or pericardium."
      },
      "child_count": 34,
      "reference_id": "MONDO:0005267"
    },
    {
      "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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 6967,
      "label": "heart disorder"
    },
    {
      "id": 16089,
      "label": "multiple congenital anomalies/dysmorphic syndrome without intellectual disability"
    }
  ]
}