{
  "id": 18350,
  "label": "Koolen-de Vries syndrome due to a point mutation",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018217",
  "properties": {
    "xrefs": [
      "GARD:0021559",
      "MEDGEN:1843302",
      "Orphanet:363965",
      "UMLS:C5680974"
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 13545,
      "label": "Koolen-de Vries syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        16087
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0010727",
          "MEDGEN:355853",
          "NORD:91169",
          "OMIM:610443",
          "Orphanet:96169",
          "UMLS:C1864871"
        ],
        "synonyms": [
          "KANSL1-related intellectual disability syndrome",
          "KDVS",
          "KdVS",
          "Koolen de Vries syndrome",
          "Koolen-De Vries syndrome",
          "chromosome 17q21.31 deletion syndrome",
          "microdeletion 17q21.31 syndrome",
          "17q21.31 deletion syndrome",
          "Koolen-DE Vries syndrome",
          "chromosome 17Q21.31 deletion syndrome",
          "chromosome 17q21.31 microdeletion syndrome",
          "microdeletion 17Q21.31 syndrome"
        ],
        "definition": "A chromosomal anomaly characterized by developmental delay, childhood hypotonia, facial dysmorphism, and a friendly/amiable behavior."
      },
      "child_count": 4,
      "reference_id": "MONDO:0012496"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 13545,
      "label": "Koolen-de Vries syndrome"
    }
  ]
}