{
  "id": 11259,
  "label": "brachyolmia type 1, Hobaek type",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010070",
  "properties": {
    "xrefs": [
      "GARD:0000995",
      "MEDGEN:338605",
      "MESH:C537099",
      "OMIM:271530",
      "Orphanet:93301",
      "UMLS:C1849055",
      "icd11.foundation:1213374086"
    ],
    "synonyms": [
      "BCYM1A",
      "brachyolmia type 1, Hobaek type",
      "brachyolmia, recessive type of Hobaek",
      "spondylodysplasia with Pure brachyolmia"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 18654,
      "label": "autosomal recessive brachyolmia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7611,
        16146
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0013171",
          "MEDGEN:1675807",
          "Orphanet:448242",
          "UMLS:C4760908",
          "icd11.foundation:625421044"
        ],
        "synonyms": [
          "brachyolmia, Hobaek/Toledo type",
          "brachyolmia, autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Brachyolmia, recessive type is a form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short-trunked short stature with platyspondyly and scoliosis. Corneal opacities and precocious calcification of the costal cartilage are rare syndromic components. Premature pubarche may occur."
      },
      "child_count": 4,
      "reference_id": "MONDO:0018662"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18654,
      "label": "autosomal recessive brachyolmia"
    }
  ]
}