{
  "id": 9305,
  "label": "mesomelic dysplasia, Kantaputra type",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007977",
  "properties": {
    "xrefs": [
      "GARD:0003074",
      "MEDGEN:331880",
      "MESH:C535547",
      "OMIM:156232",
      "Orphanet:1836",
      "SCTID:719397009",
      "UMLS:C1835009"
    ],
    "synonyms": [
      "Kantaputra mesomelic dysplasia",
      "MDK",
      "mesomelic dysplasia, Kantaputra type",
      "mesomelic dysplasia, Thai type",
      "MMDK",
      "Mdk",
      "mesomelic dysplasia Kantaputra type",
      "mesomelic dysplasia Thai type",
      "mesomelic dysplasia with ankle carpal and tarsal synostosis",
      "mesomelic dysplasia with ankle, carpal, and tarsal synostosis"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "parents": [
    {
      "id": 21245,
      "label": "mesomelic dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7171
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:593147",
          "NCIT:C121156",
          "SCTID:205473008",
          "UMLS:C0410536"
        ],
        "synonyms": [
          "mesomelic dysplasia",
          "mesomelic dysplasias",
          "Mesomelic Dysplasia",
          "Mesomelic dwarf",
          "Mesomelic dysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A form of skeletal dysplasia characterized by shortening of the bones of the middle segments of the limbs (i.e., the radii, ulnae, tibiae and fibulae)."
      },
      "child_count": 6,
      "reference_id": "MONDO:0023599"
    }
  ],
  "children": [
    {
      "id": 14396,
      "label": "chromosome 2q31.1 duplication syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        9305,
        17368
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060458",
          "GARD:0015688",
          "MEDGEN:462290",
          "OMIM:613681",
          "Orphanet:294026",
          "UMLS:C3150940"
        ],
        "synonyms": [
          "2q31.1 microduplication syndrome",
          "chromosome 2q31.1 duplication syndrome",
          "dup(2)(q31.1)",
          "trisomy 2q31.1",
          "mesomelic dysplasia, 2Q31.1 Duplication-related"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0013363"
    }
  ],
  "roots": [
    {
      "id": 21245,
      "label": "mesomelic dysplasia"
    }
  ]
}