{
  "id": 17290,
  "label": "Kleefstra syndrome due to a point mutation",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016865",
  "properties": {
    "xrefs": [
      "GARD:0017253",
      "MEDGEN:1826146",
      "Orphanet:261652",
      "UMLS:C5680724"
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 13505,
      "label": "Kleefstra syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        16087
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080597",
          "GARD:0008672",
          "MEDGEN:1684615",
          "NANDO:1200959",
          "NORD:184097",
          "OMIMPS:610253",
          "Orphanet:261494",
          "UMLS:C4551771",
          "icd11.foundation:1997337437"
        ],
        "synonyms": [
          "9Q subtelomeric deletion syndrome",
          "9Q- syndrome",
          "9q-syndrome",
          "9q34 deletion syndrome",
          "9q34.3 microdeletion syndrome",
          "Kleefstra syndrome",
          "chromosome 9Q34.3 deletion syndrome",
          "chromosome 9q deletion syndrome"
        ],
        "definition": "A genetic disorder characterized by intellectual disability, childhood hypotonia, severe expressive speech delay and a distinctive facial appearance with a spectrum of additional clinical features."
      },
      "child_count": 6,
      "reference_id": "MONDO:0012455"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 13505,
      "label": "Kleefstra syndrome"
    }
  ]
}