{
  "id": 18891,
  "label": "isolated oxycephaly",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018971",
  "properties": {
    "xrefs": [
      "GARD:0025134",
      "MEDGEN:1726910",
      "Orphanet:63440",
      "SCTID:48069004",
      "UMLS:C5399823"
    ],
    "synonyms": [
      "acrocephaly",
      "hypsicephaly",
      "hypsocephaly",
      "pyrgocephaly",
      "turricephaly"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "Isolated oxycephaly is a late-appearing form of nonsyndromic craniosynostosis characterized by premature fusion of both the coronal and sagittal sutures, and, in some cases, of the lambdoid sutures. Compensatory growth in the region of the anterior fontanel results in a pointed or cone-shaped skull."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 16200,
      "label": "isolated craniosynostosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16310
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:1863457",
          "NANDO:2200843",
          "Orphanet:139390",
          "UMLS:C5848302"
        ],
        "synonyms": [
          "nonsyndromic craniosynostosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A craniosynostosis that is not part of a larger syndrome."
      },
      "child_count": 4,
      "reference_id": "MONDO:0015337"
    }
  ],
  "children": [
    {
      "id": 8790,
      "label": "TWIST1-related craniosynostosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18891
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061010",
          "GARD:0018045",
          "MEDGEN:1646646",
          "NORD:1606",
          "OMIM:123100",
          "SCTID:57219006",
          "UMLS:C4551902"
        ],
        "synonyms": [
          "Primary Craniosynostosis",
          "TWIST1-related craniosynostosis",
          "craniosynostosis 1",
          "craniosynostosis type 1",
          "CRS",
          "CRS1",
          "craniostenosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Any craniosynostosis in which the cause of the disease is a mutation in the TWIST1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007399"
    },
    {
      "id": 15699,
      "label": "craniosynostosis 6",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18891
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061008",
          "GARD:0018048",
          "MEDGEN:904675",
          "OMIM:616602",
          "Orphanet:672985",
          "UMLS:C4225269"
        ],
        "synonyms": [
          "ZIC1 craniosynostosis",
          "craniosynostosis 6",
          "craniosynostosis caused by mutation in ZIC1",
          "craniosynostosis type 6",
          "CRS6"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Any craniosynostosis in which the cause of the disease is a mutation in the ZIC1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014705"
    }
  ],
  "roots": [
    {
      "id": 16200,
      "label": "isolated craniosynostosis"
    }
  ]
}