{
  "id": 16310,
  "label": "craniosynostosis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015469",
  "properties": {
    "xrefs": [
      "DOID:2340",
      "GARD:0006209",
      "ICD10CM:Q75.0",
      "MEDGEN:1163",
      "MESH:D003398",
      "MedDRA:10048907",
      "MedDRA:10049889",
      "NANDO:2100227",
      "NCIT:C84655",
      "OMIMPS:123100",
      "Orphanet:1531",
      "UMLS:C0010278",
      "icd11.foundation:458033798"
    ],
    "synonyms": [
      "craniosynostosis syndrome",
      "premature closure of cranial sutures",
      "CSO"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 29,
  "parents": [
    {
      "id": 3632,
      "label": "synostosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18362
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:11971",
          "GARD:0022939",
          "MEDGEN:11689",
          "MESH:D013580",
          "UMLS:C0039093"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A disease characterized by abnormal union between adjacent bones or parts of a single bone formed by osseous material, such as ossified connecting cartilage or fibrous tissue."
      },
      "child_count": 11,
      "reference_id": "MONDO:0001411"
    },
    {
      "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": 12036,
      "label": "craniosynostosis, Adelaide type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16310
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0024760",
          "MEDGEN:371600",
          "MESH:C563471",
          "OMIM:600593",
          "UMLS:C1833578"
        ],
        "synonyms": [
          "craniosynostosis, Adelaide type",
          "CRSA"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0010903"
    },
    {
      "id": 12457,
      "label": "craniosynostosis with ectopia lentis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16310
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0024790",
          "MEDGEN:350949",
          "MESH:C566357",
          "OMIM:603595",
          "UMLS:C1863678"
        ],
        "synonyms": [
          "craniosynostosis with ectopia lentis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0011347"
    },
    {
      "id": 12769,
      "label": "craniosynostosis syndrome, autosomal recessive",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7611,
        16310
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0024817",
          "MEDGEN:338335",
          "MESH:C564700",
          "OMIM:606529",
          "UMLS:C1847865"
        ],
        "synonyms": [
          "autosomal recessive craniosynostosis",
          "craniosynostosis syndrome, autosomal recessive",
          "craniosynostosis, autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Autosomal recessive form of craniosynostosis."
      },
      "child_count": 4,
      "reference_id": "MONDO:0011679"
    },
    {
      "id": 13077,
      "label": "craniosynostosis with ocular abnormalities and hallucal defects",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16310
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0024836",
          "MEDGEN:331266",
          "MESH:C564263",
          "OMIM:608279",
          "UMLS:C1842316"
        ],
        "synonyms": [
          "craniosynostosis with ocular abnormalities and hallucal defects"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0012006"
    },
    {
      "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"
    },
    {
      "id": 16201,
      "label": "syndromic craniosynostosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        16310,
        18360
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019911",
          "MEDGEN:1842203",
          "Orphanet:139393",
          "UMLS:C5680624"
        ],
        "synonyms": [
          "syndrome associated with craniosynostosis",
          "syndromic craniosynostosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A craniosynostosis that is part of a larger syndrome."
      },
      "child_count": 120,
      "reference_id": "MONDO:0015338"
    },
    {
      "id": 21041,
      "label": "craniosynostosis Fontaine type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16310
      ],
      "type_id": 0,
      "properties": {
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0022890"
    },
    {
      "id": 21042,
      "label": "craniosynostosis Maroteaux Fonfria type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16310
      ],
      "type_id": 0,
      "properties": {
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0022891"
    },
    {
      "id": 21043,
      "label": "craniosynostosis alopecia brain defect",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16310
      ],
      "type_id": 0,
      "properties": {
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0022892"
    },
    {
      "id": 21044,
      "label": "craniosynostosis arthrogryposis cleft palate",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16310
      ],
      "type_id": 0,
      "properties": {
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0022893"
    },
    {
      "id": 21045,
      "label": "craniosynostosis autosomal dominant",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16310
      ],
      "type_id": 0,
      "properties": {
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0022894"
    },
    {
      "id": 21046,
      "label": "craniosynostosis cleft lip palate arthrogryposis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16310
      ],
      "type_id": 0,
      "properties": {
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0022895"
    },
    {
      "id": 21047,
      "label": "craniosynostosis contractures cleft",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16310
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0001591"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0022896"
    },
    {
      "id": 21048,
      "label": "craniosynostosis exostoses nevus epibulbar dermoid",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16310
      ],
      "type_id": 0,
      "properties": {
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0022897"
    },
    {
      "id": 21049,
      "label": "craniosynostosis intellectual disability heart defects",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16310
      ],
      "type_id": 0,
      "properties": {
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0022898"
    },
    {
      "id": 23122,
      "label": "Hordnes Engebretsen Knudtson syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8367,
        16310,
        24272
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0002736",
          "MEDGEN:419333",
          "MESH:C536067",
          "UMLS:C2931100"
        ],
        "synonyms": [
          "acrobrachycephaly, ventriculomegaly, pulmonary stenosis, ectopic anus and intellectual disability",
          "acrobrachycephaly, ventriculomegaly, pulmonary stenosis, ectopic anus and mental retardation"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0043099"
    },
    {
      "id": 23130,
      "label": "Iida Kannari syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16310
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0003249",
          "MEDGEN:443989",
          "MESH:C536284",
          "UMLS:C2931159"
        ],
        "synonyms": [
          "craniosynostosis with joint contractures, ear deformity, cleft palate, scoliosis, and other features"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0043116"
    },
    {
      "id": 23134,
      "label": "mehta lewis patton syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3108,
        7116,
        10068,
        16310,
        24272
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0003450",
          "MEDGEN:419340",
          "MESH:C536147",
          "UMLS:C2931120"
        ],
        "synonyms": [
          "congenital heart disease, ptosis, hypodontia, and craniosynostosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0006858",
            "name": "mouth disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0043127"
    },
    {
      "id": 25116,
      "label": "non-syndromic unicoronal craniosynostosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16310
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0022470",
          "MEDGEN:1842408",
          "Orphanet:620102",
          "UMLS:C5680401"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0850073"
    },
    {
      "id": 25117,
      "label": "non-syndromic unilambdoid craniosynostosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16310
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0022471",
          "MEDGEN:1842908",
          "Orphanet:620113",
          "UMLS:C5680402"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0850074"
    },
    {
      "id": 25118,
      "label": "non-syndromic unifrontosphenoidal craniosynostosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16310
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0022472",
          "MEDGEN:1843063",
          "Orphanet:620139",
          "UMLS:C5680399"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0850075"
    },
    {
      "id": 25119,
      "label": "non-syndromic unisquamosal craniosynostosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16310
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0022473",
          "MEDGEN:1843002",
          "Orphanet:620146",
          "UMLS:C5680400"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0850076"
    },
    {
      "id": 25120,
      "label": "non-syndromic multisutural craniosynostosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16310
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0022474",
          "MEDGEN:1843294",
          "Orphanet:620152",
          "UMLS:C5680397"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0850077"
    },
    {
      "id": 25121,
      "label": "non-syndromic non-specific multisutural craniosynostosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16310
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0022475",
          "MEDGEN:1842261",
          "Orphanet:620158",
          "UMLS:C5680398"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0850078"
    },
    {
      "id": 25122,
      "label": "non-syndromic bilambdoid craniosynostosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16310
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0022476",
          "MEDGEN:1842897",
          "Orphanet:620178",
          "UMLS:C5680395"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0850079"
    },
    {
      "id": 25123,
      "label": "non-syndromic unicoronal and sagittal craniosynostosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16310
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0022477",
          "MEDGEN:1842804",
          "Orphanet:620186",
          "UMLS:C5680396"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0850080"
    },
    {
      "id": 25124,
      "label": "non-syndromic metopic and sagittal craniosynostosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16310
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0022478",
          "MEDGEN:1842791",
          "Orphanet:620192",
          "UMLS:C5680393"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0850081"
    },
    {
      "id": 25125,
      "label": "non-syndromic bicoronal and metopic craniosynostosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16310
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0022479",
          "MEDGEN:1843005",
          "Orphanet:620198",
          "UMLS:C5680394"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0850082"
    },
    {
      "id": 25126,
      "label": "non-syndromic bicoronal and sagittal craniosynostosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16310
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0022480",
          "MEDGEN:1842401",
          "Orphanet:620205",
          "UMLS:C5680391"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0850083"
    }
  ],
  "roots": [
    {
      "id": 3632,
      "label": "synostosis"
    },
    {
      "id": 5714,
      "label": "hereditary disease"
    }
  ]
}