{
  "id": 9761,
  "label": "spondyloepimetaphyseal dysplasia-hypotrichosis syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008469",
  "properties": {
    "xrefs": [
      "GARD:0010101",
      "MEDGEN:357120",
      "MESH:C535783",
      "OMIM:183849",
      "Orphanet:168443",
      "UMLS:C1866728"
    ],
    "synonyms": [
      "Whyte Petersen McAlister syndrome",
      "Whyte syndrome",
      "spondyloepimetaphyseal dysplasia with hypotrichosis"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "A rare primary bone dysplasia disorder characterized by congenital hypotrichosis associated with rhizomelic short stature (more pronounced in upper limbs than lower limbs), limited hip abduction and mild genu varum. Flared and irregular metaphyses, delayed and irregular epiphiseal ossification and pear-shaped vertebral bodies are characteristic radiologic findings."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 24235,
      "label": "spondyloepimetaphyseal dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7171
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080027",
          "GARD:0026258",
          "MEDGEN:609408",
          "SCTID:254062008",
          "UMLS:C0432211"
        ],
        "synonyms": [
          "SEMD",
          "spondylo-epi-(meta)-physeal dysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "An osteochondrodysplasia that results in abnormalities of bone growth in the vertebral column, epiphysis, and metaphysis."
      },
      "child_count": 23,
      "reference_id": "MONDO:0100510"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 24235,
      "label": "spondyloepimetaphyseal dysplasia"
    }
  ]
}