{
  "id": 15122,
  "label": "cardiofaciocutaneous syndrome 4",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014114",
  "properties": {
    "xrefs": [
      "DOID:0111463",
      "GARD:0015937",
      "MEDGEN:815337",
      "OMIM:615280",
      "UMLS:C3809007"
    ],
    "synonyms": [
      "MAP2K2 cardiofaciocutaneous syndrome",
      "cardiofaciocutaneous syndrome 4",
      "cardiofaciocutaneous syndrome caused by mutation in MAP2K2",
      "cardiofaciocutaneous syndrome type 4",
      "CFC4"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      },
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      }
    ],
    "definition": "Any cardiofaciocutaneous syndrome in which the cause of the disease is a mutation in the MAP2K2 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16162,
      "label": "cardiofaciocutaneous syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16087,
        19138,
        19780
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060233",
          "GARD:0009146",
          "MEDGEN:266149",
          "MESH:C535579",
          "NANDO:1200462",
          "NANDO:2200967",
          "NCIT:C84617",
          "NORD:891",
          "OMIMPS:115150",
          "Orphanet:1340",
          "SCTID:403770008",
          "UMLS:C1275081"
        ],
        "synonyms": [
          "CFC",
          "CFC syndrome",
          "cardiofaciocutaneous (CFC) syndrome",
          "cardiofaciocutaneous syndrome",
          "cardio-facio-cutaneous syndrome",
          "congenital heart defects characteristic facial appearance ectodermal abnormalities and growth failure"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), growth retardation and intellectual disability."
      },
      "child_count": 12,
      "reference_id": "MONDO:0015280"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16162,
      "label": "cardiofaciocutaneous syndrome"
    }
  ]
}