{
  "id": 17015,
  "label": "Kabuki syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016512",
  "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."
  },
  "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"
    },
    {
      "id": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18951
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019832",
          "MEDGEN:1826158",
          "Orphanet:102283",
          "UMLS:C5680372"
        ],
        "synonyms": [
          "MCA/MR",
          "multiple congenital anomalies-intellectual disability with or without dysmorphism",
          "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
        ]
      },
      "child_count": 338,
      "reference_id": "MONDO:0015159"
    }
  ],
  "children": [
    {
      "id": 9179,
      "label": "Kabuki syndrome 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17015
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0024579",
          "OMIM:147920"
        ],
        "synonyms": [
          "Kabuki syndrome 1",
          "Kabuki syndrome type 1",
          "KABUK1",
          "KABUKI syndrome 1",
          "Kabuki make-Up syndrome",
          "Kabuki syndrome",
          "Niikawa-Kuroki syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0007843"
    },
    {
      "id": 11624,
      "label": "Kabuki syndrome 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17015
      ],
      "type_id": 0,
      "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"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0010465"
    }
  ],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 5714,
      "label": "hereditary disease"
    },
    {
      "id": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
    }
  ]
}