{
  "id": 9458,
  "label": "osteogenesis imperfecta type 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008147",
  "properties": {
    "xrefs": [
      "DOID:0110341",
      "GARD:0010142",
      "MEDGEN:75673",
      "MESH:C536042",
      "NCIT:C99001",
      "OMIM:166210",
      "Orphanet:216804",
      "SCTID:86470003",
      "UMLS:C0268358",
      "icd11.foundation:2024049157"
    ],
    "synonyms": [
      "OI type 2",
      "OI2",
      "Vrolik type of osteogenesis imperfecta",
      "lethal osteogenesis imperfecta",
      "osteogenesis imperfecta type 2",
      "osteogenesis imperfecta type II",
      "OI, type 2",
      "Perinatally lethal OI",
      "osteogenesis imperfecta congenita",
      "osteogenesis imperfecta congenita perinatal lethal form",
      "osteogenesis imperfecta congenita, perinatal lethal form",
      "osteogenesis imperfecta, type 2",
      "osteogenesis imperfecta, type II"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "Osteogenesis imperfecta type II is a lethal type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type II present multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density on skull X-rays, and dark sclera."
  },
  "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."
    }
  ]
}