{
  "id": 10146,
  "label": "kyphomelic dysplasia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008881",
  "properties": {
    "xrefs": [
      "DOID:0061155",
      "GARD:0010149",
      "ICD9:733.29",
      "MEDGEN:140930",
      "MESH:C538128",
      "OMIM:211350",
      "Orphanet:1801",
      "SCTID:254096001",
      "UMLS:C0432239",
      "icd11.foundation:268821879"
    ],
    "synonyms": [
      "kyphomelic dysplasia",
      "bowing, congenital, with short bones",
      "congenital bowing with short bones"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "Kyphomelic dysplasia is a prenatal skeletal disease that causes dwarfism characterized bythe following: a disproportionately short stature with a short narrow chest,shortening and bending (bowing)of the limbs, flared irregular metaphyses of the bones, and characteristicfacial features.Bone changes are said to improve with age.Kyphomelic dysplasia is inherited in an autosomal recessive pattern. Recent studies indicate that Kyphomelic dysplasia is no longerconsidered it's ownentity and that individual cases should be further evaluated andre-classified as another existing chondrodysplasias, such as Schwartz-Jampel syndrome."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 19475,
      "label": "bent bone dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18360
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019196",
          "ICD9:756.59",
          "MEDGEN:609415",
          "Orphanet:93439",
          "SCTID:254095002",
          "UMLS:C0432238"
        ],
        "synonyms": [
          "campomelic dysplasia and related disorders"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 11,
      "reference_id": "MONDO:0019698"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19475,
      "label": "bent bone dysplasia"
    }
  ]
}