{
  "id": 11261,
  "label": "spondyloepiphyseal dysplasia tarda, Kohn type",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010073",
  "properties": {
    "xrefs": [
      "DOID:0112292",
      "GARD:0016995",
      "MEDGEN:338603",
      "MESH:C564796",
      "OMIM:271620",
      "Orphanet:163665",
      "SCTID:719202006",
      "UMLS:C1849053",
      "icd11.foundation:758715188"
    ],
    "synonyms": [
      "Sedt with intellectual disability",
      "Sedt with mental retardation",
      "spondyloepiphyseal dysplasia tarda with intellectual disability",
      "spondyloepiphyseal dysplasia tarda with mental retardation"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "Spondyloepiphyseal dysplasia tarda, Kohn type is characterized by short trunk dwarfism, progressive involvement of the spine and epiphyses and mild-to-moderate intellectual deficit."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 19453,
      "label": "spondyloepiphyseal dysplasia tarda",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17206
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112284",
          "GARD:0025144",
          "ICD9:756.9",
          "NORD:1732",
          "Orphanet:93284",
          "SCTID:51952004"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Spondyloepiphyseal dysplasia tarda (SEDT) is characterized by disproportionate short stature in adolescence or adulthood, associated with a short trunk and arms and barrel-shaped chest."
      },
      "child_count": 6,
      "reference_id": "MONDO:0019667"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19453,
      "label": "spondyloepiphyseal dysplasia tarda"
    }
  ]
}