{
  "id": 15070,
  "label": "Steel syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014061",
  "properties": {
    "xrefs": [
      "GARD:0017735",
      "MEDGEN:767508",
      "OMIM:615155",
      "Orphanet:438117",
      "UMLS:C3554594"
    ],
    "synonyms": [
      "bilateral hip and radial head dislocations-short stature-scoliosis-carpal coalitions-pes cavus-facial dysmorphism syndrome",
      "steel syndrome",
      "STLS",
      "dislocated hips and radial heads, carpal coalition, scoliosis, and short stature"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "A rare genetic bone disease characterized by short stature, bilateral congenital hip dislocation, radial head dislocation, carpal coalition, scoliosis, pes cavus, and atlantoaxial subluxation. Dysmorphic facial features include broad forehead, broad nasal bridge, hypertelorism, and mild midface hypoplasia. Association with bilateral sensorineural hearing loss has also been described."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 17206,
      "label": "spondyloepiphyseal dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7171
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112280",
          "GARD:0007687",
          "ICD10CM:Q77.7",
          "ICD9:756.9",
          "MEDGEN:20916",
          "MedDRA:10062920",
          "Orphanet:252",
          "UMLS:C0038015"
        ],
        "synonyms": [
          "SED",
          "spondyloepiphyseal dysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "An osteochondrodysplasia that results in abnormalities of bone growth in the vertebral column and the epiphysis."
      },
      "child_count": 44,
      "reference_id": "MONDO:0016761"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 17206,
      "label": "spondyloepiphyseal dysplasia"
    }
  ]
}