{
  "id": 18933,
  "label": "osteogenesis imperfecta",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019019",
  "properties": {
    "xrefs": [
      "DOID:12347",
      "GARD:0001017",
      "ICD10CM:Q78.0",
      "ICD9:756.51",
      "MEDGEN:45246",
      "MESH:D010013",
      "MedDRA:10031243",
      "NANDO:1200873",
      "NANDO:2201011",
      "NCIT:C26837",
      "NORD:1535",
      "OMIMPS:166200",
      "Orphanet:666",
      "SCTID:78314001",
      "UMLS:C0029434",
      "icd11.foundation:1219932551"
    ],
    "synonyms": [
      "Lobstein disease",
      "OI",
      "Osteopsathyrosis",
      "Porak and Durante disease",
      "brittle bone disease",
      "glass bone disease",
      "Vrolik disease"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "Osteogenesis imperfecta (OI) comprises a heterogeneous group of genetic disorders characterized by increased bone fragility, low bone mass, and susceptibility to bone fractures with variable severity."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 10,
  "parents": [
    {
      "id": 7171,
      "label": "osteochondrodysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7153,
        18360
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2256",
          "EFO:0005571",
          "ICD9:756.4",
          "MEDGEN:10495",
          "MESH:D010009",
          "NCIT:C84978",
          "SCTID:105985007",
          "UMLS:C0029422"
        ],
        "synonyms": [
          "skeletal dysplasia",
          "congenital skeletal dysplasia",
          "osteochondrodysplasia",
          "cartilage development disorder",
          "congenital anomaly of cartilage"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A term referring to disorders characterized by abnormalities in the development of bones and cartilage."
      },
      "child_count": 100,
      "reference_id": "MONDO:0005516"
    }
  ],
  "children": [
    {
      "id": 12485,
      "label": "brittle bone disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18933
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0024794",
          "MEDGEN:347059",
          "MESH:C565842",
          "OMIM:603828",
          "UMLS:C1859069"
        ],
        "synonyms": [
          "brittle bone disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 1,
      "reference_id": "MONDO:0011375"
    },
    {
      "id": 14936,
      "label": "osteogenesis imperfecta type 13",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18933
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110342",
          "GARD:0015856",
          "MEDGEN:766801",
          "OMIM:614856",
          "UMLS:C3553887"
        ],
        "synonyms": [
          "BMP1 osteogenesis imperfecta",
          "OI13",
          "osteogenesis imperfecta caused by mutation in BMP1",
          "OI, type 13",
          "osteogenesis imperfecta, type 13",
          "osteogenesis imperfecta, type XIII"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Any osteogenesis imperfecta in which the cause of the disease is a mutation in the BMP1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013924"
    },
    {
      "id": 17538,
      "label": "osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6979,
        6982,
        18933,
        23256
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0000587",
          "MEDGEN:928493",
          "MESH:C535617",
          "Orphanet:2773",
          "SCTID:722110003",
          "UMLS:C4302824"
        ],
        "synonyms": [
          "Al Gazali-Nair syndrome",
          "Al Gazali Sabrinathan Nair syndrome",
          "osteogenesis imperfecta retinopathy seizures intellectual deficit"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome is characterized by osteogenesis imperfecta, wormian bones, optic atrophy, retinopathy, seizures and severe developmental delay. It has been described in two sibs born to consanguineous parents."
      },
      "child_count": 0,
      "reference_id": "MONDO:0017196"
    },
    {
      "id": 18014,
      "label": "high bone mass osteogenesis imperfecta",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18933
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021366",
          "MEDGEN:1672817",
          "Orphanet:314029",
          "UMLS:C5190607"
        ],
        "synonyms": [
          "high bone mass OI"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0017791"
    },
    {
      "id": 22017,
      "label": "osteogenesis imperfecta, IIA 22",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18933
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025621",
          "MEDGEN:1801631",
          "OMIM:619795",
          "UMLS:C5676943"
        ],
        "synonyms": [
          "OI22",
          "osteogenesis imperfecta, IIA 22"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030714"
    },
    {
      "id": 22077,
      "label": "osteogenesis imperfecta, type 21",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18933
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112201",
          "GARD:0025646",
          "MEDGEN:1723598",
          "OMIM:619131",
          "UMLS:C5436875"
        ],
        "synonyms": [
          "OI21",
          "osteogenesis imperfecta 21",
          "osteogenesis imperfecta, TYPE XXI"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030861"
    },
    {
      "id": 22501,
      "label": "osteogenesis imperfecta, type 20",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18933
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111849",
          "GARD:0025758",
          "MEDGEN:1684751",
          "OMIM:618644",
          "UMLS:C5231439"
        ],
        "synonyms": [
          "OI20",
          "OSTEOGENESIS IMPERFECTA, TYPE XX"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0032846"
    },
    {
      "id": 24318,
      "label": "COL1A2-related osteogenesis imperfecta",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18933
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027284"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Any osteogenesis imperfecta in which the cause of the disease is a variant in the COL1A2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0100596"
    },
    {
      "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"
    },
    {
      "id": 25785,
      "label": "osteogenesis imperfecta, type 23",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18933
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026901",
          "MEDGEN:1846121",
          "OMIM:620639",
          "UMLS:C5882757"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0957988"
    }
  ],
  "roots": [
    {
      "id": 7171,
      "label": "osteochondrodysplasia"
    }
  ]
}