{
  "id": 8903,
  "label": "ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007520",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 11199,
      "label": "EEC syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2903,
        4370,
        18362,
        18956,
        21415
      ],
      "type_id": 0,
      "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)."
      },
      "child_count": 10,
      "reference_id": "MONDO:0010004"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 11199,
      "label": "EEC syndrome"
    }
  ]
}