{
  "id": 11210,
  "label": "sclerosteosis 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010016",
  "properties": {
    "xrefs": [
      "DOID:0060756",
      "GARD:0015233",
      "MEDGEN:1642815",
      "OMIM:269500",
      "UMLS:C4551483"
    ],
    "synonyms": [
      "SOST sclerosteosis",
      "SOST1",
      "sclerosteosis 1",
      "sclerosteosis caused by mutation in SOST",
      "sclerosteosis type 1",
      "SOST",
      "cortical hyperostosis with syndactyly"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "Any sclerosteosis in which the cause of the disease is a mutation in the SOST 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"
    }
  ]
}