{
  "id": 9313,
  "label": "Kniest dysplasia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007987",
  "properties": {
    "xrefs": [
      "DOID:0080045",
      "GARD:0006841",
      "ICD9:756.9",
      "MEDGEN:75559",
      "MESH:C537207",
      "NANDO:2201350",
      "NCIT:C125594",
      "NORD:1339",
      "OMIM:156550",
      "Orphanet:485",
      "SCTID:53974002",
      "UMLS:C0265279",
      "icd11.foundation:2088691719"
    ],
    "synonyms": [
      "Kniest dysplasia"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0003900",
        "name": "connective tissue disorder"
      }
    ],
    "definition": "A rare type 2 collagen-related bone disorder characterized by moderately severe chondrodysplasia with disproportionate short stature of prenatal onset, prominent joints with restricted mobility, large epiphyses and dumbbell deformity of the long bones."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "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"
    },
    {
      "id": 17208,
      "label": "spondylometaphyseal dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18360
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112295",
          "GARD:0018685",
          "MEDGEN:1674850",
          "OMIMPS:184255",
          "Orphanet:254",
          "UMLS:C4759767",
          "icd11.foundation:181781948"
        ],
        "synonyms": [
          "spondylometaphyseal dysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Spondylometaphyseal dysplasias are a heterogeneous group of disorders associated with walking and growth disturbances that become evident during the second year of life."
      },
      "child_count": 19,
      "reference_id": "MONDO:0016763"
    },
    {
      "id": 20997,
      "label": "type 2 collagenopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        6394,
        18360,
        21247
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019186",
          "HGNC:2200",
          "MEDGEN:419326",
          "MESH:C535964",
          "NANDO:2201016",
          "Orphanet:93421",
          "UMLS:C2931073"
        ],
        "synonyms": [
          "COL2A1 disease or disorder",
          "collagenopathy type 2 alpha 1",
          "disease or disorder caused by mutation in COL2A1",
          "COL2A1",
          "cartilage collagen",
          "collagen II"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ],
        "definition": "Any disease or disorder in which the cause of the disease is a mutation in the COL2A1 gene."
      },
      "child_count": 56,
      "reference_id": "MONDO:0022800"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 7171,
      "label": "osteochondrodysplasia"
    },
    {
      "id": 17208,
      "label": "spondylometaphyseal dysplasia"
    },
    {
      "id": 20997,
      "label": "type 2 collagenopathy"
    }
  ]
}