{
  "id": 22235,
  "label": "craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0031329",
  "properties": {
    "xrefs": [
      "DOID:0081072",
      "OMIMPS:213980"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "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": 5714,
      "label": "hereditary disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29382
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:630",
          "EFO:0000508",
          "ICD9:799.89",
          "MEDGEN:5527",
          "MESH:D030342",
          "NCIT:C3101",
          "SCTID:32895009",
          "UMLS:C0019247"
        ],
        "synonyms": [
          "genetic condition",
          "genetic disease",
          "genetic disorder",
          "hereditary disease",
          "hereditary disease or disorder",
          "hereditary diseases",
          "inherited disease",
          "inherited genetic disease",
          "molecular disease",
          "Mendelian disease",
          "familial disorder",
          "inborn disorder"
        ],
        "definition": "A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome."
      },
      "child_count": 1925,
      "reference_id": "MONDO:0003847"
    }
  ],
  "children": [
    {
      "id": 25024,
      "label": "craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        22235
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081124",
          "GARD:0001210",
          "MEDGEN:1808104",
          "MESH:C565862",
          "OMIM:213980",
          "Orphanet:1394",
          "SCTID:720635002",
          "UMLS:C5677021"
        ],
        "synonyms": [
          "CFSMR1",
          "cerebrofaciothoracic dysplasia",
          "pascual-Castroviejo syndrome type 1",
          "CFSMR",
          "cerebro facio thoracic dysplasia",
          "pascual-Castroviejo syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development in which the cause of the disease is a variation in the TMCO1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0800436"
    },
    {
      "id": 25535,
      "label": "craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        22235
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081125",
          "MEDGEN:1803802",
          "OMIM:616994",
          "UMLS:C5676895"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0859567"
    }
  ],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 5714,
      "label": "hereditary disease"
    }
  ]
}