{
  "id": 8923,
  "label": "Camurati-Engelmann disease",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007542",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    },
    {
      "id": 18360,
      "label": "skeletal dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        7061
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:98053",
          "Orphanet:364526",
          "UMLS:C0410528"
        ],
        "synonyms": [
          "Mendelian skeletal dysplasia",
          "primary bone dysplasia",
          "primary osteodysplasia",
          "primary skeletal dysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Any Mendelian diseases that affects growth and development of the skeleton."
      },
      "child_count": 238,
      "reference_id": "MONDO:0018230"
    }
  ],
  "children": [
    {
      "id": 12780,
      "label": "Camurati-Engelmann disease type 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8923
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011690"
    },
    {
      "id": 24758,
      "label": "Camurati-Engelmann disease type 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8923
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061229",
          "OMIM:131300"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A Camurati-Engelmann disease caused by a variation in the TGFB1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0700385"
    }
  ],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 18360,
      "label": "skeletal dysplasia"
    }
  ]
}