{
  "id": 9462,
  "label": "gnathodiaphyseal dysplasia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008151",
  "properties": {
    "xrefs": [
      "DOID:0111533",
      "GARD:0008698",
      "MEDGEN:331575",
      "MESH:C536039",
      "OMIM:166260",
      "Orphanet:53697",
      "SCTID:715568002",
      "UMLS:C1833736",
      "icd11.foundation:1984860886"
    ],
    "synonyms": [
      "GDD",
      "gnathodiaphyseal dysplasia",
      "GNATHODIAPHYSEAL dysplasia",
      "Gnathodiaphyseal sclerosis",
      "Levin syndrome 2",
      "osteogenesis imperfecta Levin type",
      "osteogenesis imperfecta with unusual skeletal lesions"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "Gnathodiaphyseal dysplasia (GDD) is a bone dysplasia characterized by bone fragility, frequent bone fractures at a young age, cemento-osseous lesions of the jaw bones, bowing of tubular bones (tibia and fibula) and diaphyseal sclerosis of long bones associated with generalized osteopenia. GD follows an autosomal dominant mode of transmission."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 24803,
      "label": "osteogenesis imperfecta and a reduction of bone mineral density.",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18933
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026427",
          "HP:0004349"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A skeletal dysplasia characterized by osteogenesis imperfecta and decreased bone density."
      },
      "child_count": 34,
      "reference_id": "MONDO:0800064"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 24803,
      "label": "osteogenesis imperfecta and a reduction of bone mineral density."
    }
  ]
}