{
  "id": 12780,
  "label": "Camurati-Engelmann disease type 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011690",
  "properties": {
    "xrefs": [
      "DOID:0061230",
      "MEDGEN:419470",
      "MESH:C537978",
      "OMIM:606631",
      "UMLS:C2931683"
    ],
    "synonyms": [
      "Camurati-Engelmann disease, type 2",
      "CAEND2",
      "Camurati Engelmann disease, type 2",
      "progressive diaphyseal dysplasia with striations of the bones"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "Camurati-Engelmann Disease not associated with TGFB1. This is an n-of-1 use case where only one patient or family has been described with this disorder."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 8923,
      "label": "Camurati-Engelmann disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        18360
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:4997",
          "GARD:0001072",
          "ICD10CM:Q78.3",
          "ICD9:756.59",
          "MEDGEN:4268",
          "NANDO:2200970",
          "NCIT:C84610",
          "NORD:885",
          "OMIMPS:131300",
          "Orphanet:1328",
          "SCTID:318761000119105",
          "UMLS:C0011989"
        ],
        "synonyms": [
          "Camurati-Engelmann disease",
          "Camurati-Engelmann syndrome",
          "Camurati-Englemann disease",
          "progressive diaphyseal dysplasia",
          "CAEND",
          "CED",
          "DPD1",
          "Engelmann disease",
          "diaphyseal dysplasia 1, progressive"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability."
      },
      "child_count": 4,
      "reference_id": "MONDO:0007542"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 8923,
      "label": "Camurati-Engelmann disease"
    }
  ]
}