{
  "id": 16162,
  "label": "cardiofaciocutaneous syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015280",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "parents": [
    {
      "id": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18951
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019832",
          "MEDGEN:1826158",
          "Orphanet:102283",
          "UMLS:C5680372"
        ],
        "synonyms": [
          "MCA/MR",
          "multiple congenital anomalies-intellectual disability with or without dysmorphism",
          "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
        ]
      },
      "child_count": 338,
      "reference_id": "MONDO:0015159"
    },
    {
      "id": 19138,
      "label": "ectodermal dysplasia syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        20277,
        23867
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2121",
          "GARD:0006317",
          "ICD9:757.31",
          "MEDGEN:8544",
          "MESH:D004476",
          "MedDRA:10010452",
          "NCIT:C84683",
          "OMIMPS:305100",
          "Orphanet:79373",
          "SCTID:8654005",
          "UMLS:C0013575",
          "icd11.foundation:1156567558"
        ],
        "synonyms": [
          "ectodermal dysplasia",
          "ectodermal dysplasia (select examples)"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures."
      },
      "child_count": 360,
      "reference_id": "MONDO:0019287"
    },
    {
      "id": 19780,
      "label": "Noonan syndrome and Noonan-related syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        20302,
        20383,
        21518
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019561",
          "MEDGEN:1826127",
          "MESH:C537846",
          "Orphanet:98733",
          "UMLS:C5681679"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ]
      },
      "child_count": 18,
      "reference_id": "MONDO:0020297"
    }
  ],
  "children": [
    {
      "id": 8667,
      "label": "cardiofaciocutaneous syndrome 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16162
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111460",
          "GARD:0024539",
          "OMIM:115150"
        ],
        "synonyms": [
          "cardiofaciocutaneous syndrome",
          "BRAF cardiofaciocutaneous syndrome",
          "cardiofaciocutaneous syndrome 1",
          "cardiofaciocutaneous syndrome caused by mutation in BRAF",
          "cardiofaciocutaneous syndrome type 1",
          "CFC syndrome",
          "CFC1",
          "Cfcs"
        ],
        "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 BRAF gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007265"
    },
    {
      "id": 15120,
      "label": "cardiofaciocutaneous syndrome 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16162
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111461",
          "GARD:0015935",
          "MEDGEN:815335",
          "OMIM:615278",
          "UMLS:C3809005"
        ],
        "synonyms": [
          "KRAS cardiofaciocutaneous syndrome",
          "cardiofaciocutaneous syndrome 2",
          "cardiofaciocutaneous syndrome caused by mutation in KRAS",
          "cardiofaciocutaneous syndrome caused by mutation in kras",
          "cardiofaciocutaneous syndrome type 2",
          "kras cardiofaciocutaneous syndrome",
          "CFC2"
        ],
        "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 KRAS gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014112"
    },
    {
      "id": 15121,
      "label": "cardiofaciocutaneous syndrome 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16162
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111462",
          "GARD:0015936",
          "MEDGEN:815336",
          "OMIM:615279",
          "UMLS:C3809006"
        ],
        "synonyms": [
          "MAP2K1 cardiofaciocutaneous syndrome",
          "cardiofaciocutaneous syndrome 3",
          "cardiofaciocutaneous syndrome caused by mutation in MAP2K1",
          "cardiofaciocutaneous syndrome type 3",
          "CFC3"
        ],
        "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 MAP2K1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014113"
    },
    {
      "id": 15122,
      "label": "cardiofaciocutaneous syndrome 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16162
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014114"
    }
  ],
  "roots": [
    {
      "id": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
    },
    {
      "id": 19138,
      "label": "ectodermal dysplasia syndrome"
    },
    {
      "id": 19780,
      "label": "Noonan syndrome and Noonan-related syndrome"
    }
  ]
}