{
  "id": 12434,
  "label": "radioulnar synostosis-microcephaly-scoliosis syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011320",
  "properties": {
    "xrefs": [
      "GARD:0000394",
      "MEDGEN:400399",
      "OMIM:603438",
      "Orphanet:3268",
      "UMLS:C1863881"
    ],
    "synonyms": [
      "Giuffre-Tsukahara syndrome",
      "Giuffré-Tsukahara syndrome",
      "Tsukahara syndrome",
      "Tsukahara syndrome of radioulnar synostosis, short stature, microcephaly, scoliosis, and intellectual disability",
      "Tsukahara syndrome of radioulnar synostosis, short stature, microcephaly, scoliosis, and mental retardation",
      "radioulnar synostosis with microcephaly, short stature, scoliosis, and intellectual disability",
      "radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "An extremely rare syndrome characterized by the association of radioulnar synostosis with microcephaly, scoliosis, short stature and intellectual deficit."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    }
  ]
}