{
  "id": 13638,
  "label": "osteogenesis imperfecta type 5",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012591",
  "properties": {
    "xrefs": [
      "DOID:0110344",
      "GARD:0008699",
      "MEDGEN:419332",
      "MESH:C567042",
      "OMIM:610967",
      "Orphanet:216828",
      "UMLS:C2931093",
      "icd11.foundation:1718903422"
    ],
    "synonyms": [
      "IFITM5 osteogenesis imperfecta",
      "OI type 5",
      "OI5",
      "osteogenesis imperfecta caused by mutation in IFITM5",
      "OI type V",
      "OI with calcification in interosseous membranes",
      "OI, type 5",
      "osteogenesis imperfecta, type 5",
      "osteogenesis imperfecta, type V",
      "type V OI"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "Osteogenesis imperfecta type V is a moderate type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures with variable severity. OI type V is characterized by mild to moderate short stature, dislocation of the radial head, mineralized interosseous membranes, hyperplasic callus, white sclera and no dentinogenesis imperfecta (DI)."
  },
  "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."
    }
  ]
}