{
  "id": 11262,
  "label": "brachyolmia type 1, toledo type",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010074",
  "properties": {
    "xrefs": [
      "GARD:0004977",
      "MEDGEN:376504",
      "MESH:C535787",
      "OMIM:271630",
      "Orphanet:93303",
      "UMLS:C1849048",
      "icd11.foundation:637954533"
    ],
    "synonyms": [
      "BCYM1B",
      "PAPS-chondroitin sulfate sulfotransferase deficiency",
      "PAPS-chondroitin sulphate sulfotransferase deficiency",
      "Sed, chondroitin sulfate type",
      "Sed, chondroitin sulphate type",
      "brachyolmia type 1, Toledo type",
      "spondyloepiphyseal dysplasia tarda, Toledo type"
    ],
    "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"
    }
  ]
}