{
  "id": 11199,
  "label": "EEC syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010004",
  "properties": {
    "xrefs": [
      "DOID:0060782",
      "GARD:0002076",
      "MEDGEN:98357",
      "MESH:C536189",
      "NCIT:C148261",
      "NORD:1079",
      "OMIM:268650",
      "Orphanet:1896",
      "SCTID:39788007",
      "UMLS:C0406704"
    ],
    "synonyms": [
      "Ectrodactyly Ectodermal Dysplasia Cleft Lip/Palate",
      "ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome",
      "ectrodactyly-ectodermal dysplasia-cleft syndrome",
      "RUDIGER syndrome",
      "ectrodactyly-cleft lip/palate syndrome",
      "ectrodactyly-ectodermal dysplasia-cleft lip/cleft palate",
      "ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ],
    "definition": "EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate)."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 2903,
      "label": "autosomal dominant disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050736",
          "ICD9:758.5",
          "MEDGEN:539206",
          "SCTID:11164009",
          "UMLS:C0265385"
        ],
        "synonyms": [
          "autosomal dominant disease or disorder",
          "autosomal dominant hereditary disorder",
          "autosomal dominant inherited disorder",
          "disease or disorder, autosomal dominant",
          "disease, autosomal dominant"
        ],
        "definition": "Autosomal dominant form of disease."
      },
      "child_count": 192,
      "reference_id": "MONDO:0000426"
    },
    {
      "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": 18362,
      "label": "dysostosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7153
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1934",
          "ICD9:756.9",
          "MEDGEN:4430",
          "MESH:D004413",
          "NCIT:C34560",
          "Orphanet:364559",
          "SCTID:109420003",
          "UMLS:C0013393"
        ],
        "synonyms": [
          "dysostosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A group of disorders in which the skeletal involvement is predominantly manifested as abnormalities of individual bones or in a group of bones."
      },
      "child_count": 108,
      "reference_id": "MONDO:0018234"
    },
    {
      "id": 18956,
      "label": "congenital limb malformation",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19507
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "Orphanet:68378"
        ],
        "synonyms": [
          "congenital limb malformation"
        ]
      },
      "child_count": 107,
      "reference_id": "MONDO:0019054"
    },
    {
      "id": 21415,
      "label": "disorder of visual system",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "SCTID:128127008"
        ],
        "synonyms": [
          "disease of visual system",
          "disease or disorder of visual system",
          "disorder of visual system",
          "visual system disease",
          "visual system disease or disorder",
          "visual system disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "A disease that involves the visual system."
      },
      "child_count": 30,
      "reference_id": "MONDO:0024458"
    }
  ],
  "children": [
    {
      "id": 8903,
      "label": "ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11199
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060784",
          "GARD:0015063",
          "MEDGEN:343663",
          "MESH:C565062",
          "OMIM:129900",
          "UMLS:C1851841"
        ],
        "synonyms": [
          "EEC syndrome 1",
          "EEC syndrome-1",
          "EEC1",
          "ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome type 1",
          "EEC",
          "ectrodactyly, ectodermal dysplasia, and cleft LIP/palate syndrome 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "An EEC syndrome characterized by autosomal dominant inheritance that has material basis in variation in the chromosome region 7q11.2-q21.3."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007520"
    },
    {
      "id": 12533,
      "label": "ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11199,
        29233
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060783",
          "GARD:0024798",
          "MEDGEN:347666",
          "MESH:C565799",
          "OMIM:604292",
          "UMLS:C1858562"
        ],
        "synonyms": [
          "EEC syndrome 3",
          "EEC syndrome caused by mutation in TP63",
          "EEC3",
          "TP63 EEC syndrome",
          "ectrodactyly, ectodermal dysplasia, and cleft Lip/palate syndrome type 3",
          "ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome type 3",
          "ectrodactyly, ectodermal dysplasia, and cleft LIP/palate syndrome 3"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Any EEC syndrome in which the cause of the disease is a mutation in the TP63 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011428"
    }
  ],
  "roots": [
    {
      "id": 2903,
      "label": "autosomal dominant disease"
    },
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 18362,
      "label": "dysostosis"
    },
    {
      "id": 18956,
      "label": "congenital limb malformation"
    },
    {
      "id": 21415,
      "label": "disorder of visual system"
    }
  ]
}