{
  "id": 9769,
  "label": "spondylometaphyseal dysplasia, Kozlowski type",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008477",
  "properties": {
    "xrefs": [
      "DOID:0111554",
      "GARD:0003047",
      "MEDGEN:82698",
      "MESH:C535797",
      "OMIM:184252",
      "Orphanet:93314",
      "UMLS:C0265280",
      "icd11.foundation:360868302"
    ],
    "synonyms": [
      "spondylometaphyseal dysplasia, Kozlowski type",
      "Dysmorphism arthrogryposis skeletal maturation advanced",
      "Jequier Kozlowski skeletal dysplasia",
      "Jequier-Kozlowski syndrome",
      "SMDK",
      "SmD Kozlowski type",
      "SmD, Kozlowski type",
      "skeletal dysplasia Jequier-Kozlowski type"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "Spondylometaphyseal dysplasia, Kozlowski type is characterized by short stature (short-trunk dwarfism), scoliosis, metaphyseal abnormalities in the femur (prominent in the femoral neck and trochanteric area), coxa vara and generalized platyspondyly."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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": 18364,
      "label": "TRPV4-related bone disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18360
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021577",
          "MEDGEN:1842686",
          "NANDO:2201021",
          "Orphanet:364820",
          "UMLS:C5680977"
        ],
        "synonyms": [
          "TRPV4-related skeletal dysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 6,
      "reference_id": "MONDO:0018240"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 17208,
      "label": "spondylometaphyseal dysplasia"
    },
    {
      "id": 18364,
      "label": "TRPV4-related bone disorder"
    }
  ]
}