{
  "id": 11144,
  "label": "Pyle disease",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009943",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 7171,
      "label": "osteochondrodysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7153,
        18360
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2256",
          "EFO:0005571",
          "ICD9:756.4",
          "MEDGEN:10495",
          "MESH:D010009",
          "NCIT:C84978",
          "SCTID:105985007",
          "UMLS:C0029422"
        ],
        "synonyms": [
          "skeletal dysplasia",
          "congenital skeletal dysplasia",
          "osteochondrodysplasia",
          "cartilage development disorder",
          "congenital anomaly of cartilage"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A term referring to disorders characterized by abnormalities in the development of bones and cartilage."
      },
      "child_count": 100,
      "reference_id": "MONDO:0005516"
    }
  ],
  "children": [
    {
      "id": 2739,
      "label": "metaphyseal chondrodysplasia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11144
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0022714",
          "HP:0005871",
          "MEDGEN:120528",
          "SCTID:28681006",
          "UMLS:C0265290"
        ],
        "synonyms": [
          "metaphyseal chondrodysplasia",
          "metaphyseal chondrodysplasia (disease)"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0000138"
    },
    {
      "id": 10229,
      "label": "chondrodysplasia calcificans Metaphysealis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11144
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0010613",
          "MEDGEN:347809",
          "MESH:C565855",
          "OMIM:215050",
          "UMLS:C1859147"
        ],
        "synonyms": [
          "chondrodysplasia calcificans Metaphysealis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0008971"
    }
  ],
  "roots": [
    {
      "id": 7171,
      "label": "osteochondrodysplasia"
    }
  ]
}