{
  "id": 11028,
  "label": "lethal osteosclerotic bone dysplasia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009821",
  "properties": {
    "xrefs": [
      "GARD:0000282",
      "MEDGEN:342416",
      "MESH:C535282",
      "MESH:C564916",
      "OMIM:259660",
      "OMIM:259775",
      "Orphanet:1832",
      "UMLS:C1850106",
      "icd11.foundation:1306493470"
    ],
    "synonyms": [
      "RAINE syndrome",
      "Raine syndrome",
      "lethal osteosclerotic bone dysplasia",
      "osteomalacia, sclerosing, with cerebral calcification",
      "osteosclerotic bone dysplasia, lethal",
      "RNS",
      "combination of microcephaly, exophthalmos, hypoplastic nose and midface, gum hyperplasia, cleft palate, apparently low-set ears, and osteosclerosis"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "Generalized osteosclerosis with periosteal bone formation, characteristic facial dysmorphism, brain abnormalities including intracerebral calcifications, and neonatal lethal course."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 19477,
      "label": "neonatal osteosclerotic dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7171
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019199",
          "MEDGEN:721998",
          "Orphanet:93443",
          "SCTID:389236000",
          "UMLS:C1300205"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 5,
      "reference_id": "MONDO:0019702"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19477,
      "label": "neonatal osteosclerotic dysplasia"
    }
  ]
}