{
  "id": 14393,
  "label": "brachyolmia, Maroteaux type",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013360",
  "properties": {
    "xrefs": [
      "GARD:0016816",
      "MEDGEN:1777254",
      "OMIM:613678",
      "Orphanet:93302",
      "SCTID:389165004",
      "UMLS:C5399913"
    ],
    "synonyms": [
      "brachyolmia type 2",
      "brachyolmia, Maroteaux type",
      "BCYM2"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "Autosomal recessive brachyolmia, Maroteaux type is a relatively mild form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short trunk/short stature, generalized platyspondyly and rounding of vertebral bodies. It remains unknown whether the phenotype represents a single disease entity or a heterogeneous group of mild skeletal dysplasias."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16146,
      "label": "brachyolmia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7171,
        19472
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050690",
          "GARD:0010903",
          "ICD9:756.19",
          "MEDGEN:96584",
          "MESH:C537098",
          "Orphanet:1293",
          "SCTID:254088006",
          "UMLS:C0432228",
          "icd11.foundation:1255949169"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Brachyolmia is a rare, clinically and genetically heterogeneous group of bone disorders characterized by short trunk, mild short stature, scoliosis and generalized platyspondyly without significant abnormalities in the long bones."
      },
      "child_count": 6,
      "reference_id": "MONDO:0015262"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16146,
      "label": "brachyolmia"
    }
  ]
}