{
  "id": 12144,
  "label": "brachyolmia-amelogenesis imperfecta syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011018",
  "properties": {
    "xrefs": [
      "DOID:0090143",
      "GARD:0005478",
      "MEDGEN:318659",
      "OMIM:601216",
      "Orphanet:2899",
      "SCTID:716195006",
      "UMLS:C1832594"
    ],
    "synonyms": [
      "DASS",
      "Verloes-Bourguignon syndrome",
      "dental anomalies and short stature",
      "platyspondyly with amelogenesis imperfecta",
      "platyspondyly-amelogenesis imperfecta syndrome",
      "tooth agenesis, selective, 6",
      "Verloes Bourguignon syndrome",
      "amelogenesis imperfecta and platyspondyly",
      "skeletal dysplasia with amelogenesis imperfecta and platyspondyly",
      "tooth agenesis, selective, 6, formerly"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "An exceedingly rare form of brachyolmia, characterized by mild platyspondyly, broad ilia, elongated femoral necks with coxa valga, scoliosis, and short trunked short stature associated with amelogenesis imperfecta of both primary and permanent dentition."
  },
  "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"
    }
  ]
}