{
  "id": 11624,
  "label": "Kabuki syndrome 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010465",
  "properties": {
    "xrefs": [
      "GARD:0015270",
      "MEDGEN:477126",
      "OMIM:300867",
      "UMLS:C3275495"
    ],
    "synonyms": [
      "Kabuki syndrome 2",
      "Kabuki syndrome 2, X-linked dominant",
      "Kabuki syndrome type 2",
      "KABUK2",
      "KABUKI syndrome 2"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 17015,
      "label": "Kabuki syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        5714,
        16087
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060473",
          "GARD:0006810",
          "MEDGEN:162897",
          "MESH:C537705",
          "MedDRA:10063935",
          "NANDO:1200672",
          "NANDO:2200956",
          "NCIT:C124837",
          "NORD:1318",
          "OMIMPS:147920",
          "Orphanet:2322",
          "SCTID:313426007",
          "UMLS:C0796004",
          "icd11.foundation:1104246467"
        ],
        "synonyms": [
          "KMS",
          "Kabuki make-up syndrome",
          "Niikawa-Kuroki syndrome",
          "NKS"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal growth deficiency."
      },
      "child_count": 6,
      "reference_id": "MONDO:0016512"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 17015,
      "label": "Kabuki syndrome"
    }
  ]
}