{
  "id": 14701,
  "label": "sclerosteosis 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013679",
  "properties": {
    "xrefs": [
      "DOID:0060757",
      "GARD:0015786",
      "MEDGEN:482032",
      "OMIM:614305",
      "UMLS:C3280402"
    ],
    "synonyms": [
      "LRP4 sclerosteosis",
      "SOST2",
      "sclerosteosis 2",
      "sclerosteosis caused by mutation in LRP4",
      "sclerosteosis type 2"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "Any sclerosteosis in which the cause of the disease is a mutation in the LRP4 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 18056,
      "label": "sclerosteosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4308,
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060251",
          "GARD:0004771",
          "ICD9:756.59",
          "MEDGEN:120530",
          "MESH:C537525",
          "NANDO:2201369",
          "NCIT:C131133",
          "OMIMPS:269500",
          "Orphanet:3152",
          "SCTID:17568006",
          "UMLS:C0265301",
          "icd11.foundation:371637416"
        ],
        "synonyms": [
          "cortical hyperostosis with syndactyly",
          "cortical hyperostosis-syndactyly syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Sclerosteosis is a very rare serious sclerosing hyperostosis syndrome characterized clinically by variable syndactyly and progressive skeletal overgrowth (particularly of the skull), resulting in distinctive facial features (mandibular overgrowth, frontal bossing, midfacial hypoplasia), cranial nerve entrapment causing facial palsy and deafness, and potentially lethal elevation of intracranial pressure."
      },
      "child_count": 4,
      "reference_id": "MONDO:0017838"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18056,
      "label": "sclerosteosis"
    }
  ]
}