{
  "id": 18056,
  "label": "sclerosteosis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017838",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 4308,
      "label": "hyperostosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3151
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:205",
          "ICD10CM:M89.3",
          "ICD9:733.99",
          "MEDGEN:9366",
          "MESH:D015576",
          "NCIT:C34712",
          "SCTID:203514008",
          "UMLS:C0020492"
        ],
        "synonyms": [
          "bone hypertrophy",
          "hypertrophy of bone",
          "hypertrophy of bone (morphologic abnormality)"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Excessive thickening of bone."
      },
      "child_count": 9,
      "reference_id": "MONDO:0002185"
    },
    {
      "id": 5714,
      "label": "hereditary disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29382
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:630",
          "EFO:0000508",
          "ICD9:799.89",
          "MEDGEN:5527",
          "MESH:D030342",
          "NCIT:C3101",
          "SCTID:32895009",
          "UMLS:C0019247"
        ],
        "synonyms": [
          "genetic condition",
          "genetic disease",
          "genetic disorder",
          "hereditary disease",
          "hereditary disease or disorder",
          "hereditary diseases",
          "inherited disease",
          "inherited genetic disease",
          "molecular disease",
          "Mendelian disease",
          "familial disorder",
          "inborn disorder"
        ],
        "definition": "A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome."
      },
      "child_count": 1925,
      "reference_id": "MONDO:0003847"
    }
  ],
  "children": [
    {
      "id": 11210,
      "label": "sclerosteosis 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18056
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010016"
    },
    {
      "id": 14701,
      "label": "sclerosteosis 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18056
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013679"
    }
  ],
  "roots": [
    {
      "id": 4308,
      "label": "hyperostosis"
    },
    {
      "id": 5714,
      "label": "hereditary disease"
    }
  ]
}