{
  "id": 10229,
  "label": "chondrodysplasia calcificans Metaphysealis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008971",
  "properties": {
    "xrefs": [
      "GARD:0010613",
      "MEDGEN:347809",
      "MESH:C565855",
      "OMIM:215050",
      "UMLS:C1859147"
    ],
    "synonyms": [
      "chondrodysplasia calcificans Metaphysealis"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 11144,
      "label": "Pyle disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7171
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080019",
          "GARD:0004612",
          "ICD10CM:Q78.5",
          "ICD9:758.5",
          "MEDGEN:82704",
          "MESH:C536252",
          "NANDO:2201367",
          "OMIM:265900",
          "Orphanet:3005",
          "SCTID:27837003",
          "UMLS:C0265294",
          "icd11.foundation:651364947"
        ],
        "synonyms": [
          "metaphyseal dysplasia",
          "Bakwin-Krida syndrome",
          "Pyle disease",
          "Pyle's disease",
          "Pyle's syndrome",
          "Pyle-Cohn syndrome",
          "chondrodysplasia calcificans metaphysealis",
          "metaphyseal dysplasia, Pyle type",
          "Pyl",
          "metaphyseal dysplasia Pyle type"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A bone dysplasia characterized by genu valgum, metaphyseal anomalies with broadening of the long bones extending into the diaphyses and giving the femora and tibiae an 'Erlenmeyer flask'' appearance, widening of the ribs and clavicles, platyspondyly and cortical thinning."
      },
      "child_count": 2,
      "reference_id": "MONDO:0009943"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 11144,
      "label": "Pyle disease"
    }
  ]
}