{
  "id": 16690,
  "label": "isolated encephalocele",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016057",
  "properties": {
    "xrefs": [
      "GARD:0006333",
      "MEDGEN:1830107",
      "MedDRA:10014617",
      "NORD:1089",
      "Orphanet:199647",
      "UMLS:C5680519"
    ],
    "synonyms": [
      "Encephalocele",
      "bifid cranium",
      "craniocele",
      "cranium bifidum",
      "encephalocele"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Brain tissue herniation through a congenital or acquired defect in the skull. The majority of congenital encephaloceles occur in the occipital or frontal regions. Clinical features include a protuberant mass that may be pulsatile. The quantity and location of protruding neural tissue determines the type and degree of neurologic deficit. Visual defects, psychomotor developmental delay, and persistent motor deficits frequently occur."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 5,
  "parents": [
    {
      "id": 17458,
      "label": "cephalocele",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4427,
        20383
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020967",
          "HP:0011815",
          "ICD10CM:Q01",
          "ICD9:742.0",
          "MEDGEN:4934",
          "NCIT:C84687",
          "Orphanet:268817",
          "SCTID:55999004",
          "UMLS:C0014065",
          "icd11.foundation:1520916568"
        ],
        "synonyms": [
          "cephalocele",
          "cephalocele (disease)",
          "cranium bifidum",
          "encephalocele"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A congenital neural tube closure defect resulting in the protrusion of the brain through a skull opening. When the protrusion includes the meninges, the term encephalomeningocele is used."
      },
      "child_count": 4,
      "reference_id": "MONDO:0017078"
    }
  ],
  "children": [
    {
      "id": 16247,
      "label": "nasal encephalocele",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16690,
        21538
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019951",
          "MEDGEN:507680",
          "Orphanet:141118",
          "SCTID:65455002",
          "UMLS:C0014066",
          "icd11.foundation:884932601"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024623",
            "name": "otorhinolaryngologic disease"
          }
        ],
        "definition": "Nasal encephalocele is an extracranial herniation of intracranial contents (that maintain a connection to the subarachnoid space) into the fonticulus frontalis, presenting with nasal broadening and/or as a compressible, blue, pulsatile mass near the nasal bridge (that enlarges on crying or with jugular vein compression) or as an intranasal mass originating in the cribiform plate and that can cause nasal obstruction or respiratory distress. Hydrocephalus and increased intracranial pressure are also reported in some cases."
      },
      "child_count": 0,
      "reference_id": "MONDO:0015394"
    },
    {
      "id": 16662,
      "label": "frontal encephalocele",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16690
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018753",
          "ICD10CM:Q01.0",
          "MEDGEN:98460",
          "Orphanet:1931",
          "SCTID:253103006",
          "UMLS:C0431289",
          "icd11.foundation:1375023725"
        ],
        "synonyms": [
          "anterior encephalocele"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0016020"
    },
    {
      "id": 17460,
      "label": "occipital encephalocele",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16690
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020969",
          "ICD10CM:Q01.2",
          "MEDGEN:4935",
          "Orphanet:268823",
          "SCTID:42376006",
          "UMLS:C0014067",
          "icd11.foundation:1075031814"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0017080"
    },
    {
      "id": 17461,
      "label": "parietal encephalocele",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16690
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020970",
          "MEDGEN:488903",
          "Orphanet:268826",
          "SCTID:253109005",
          "UMLS:C0431294",
          "icd11.foundation:1122294944"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0017081"
    },
    {
      "id": 17462,
      "label": "basal encephalocele",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16690
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020971",
          "MEDGEN:868771",
          "Orphanet:268829",
          "UMLS:C4023176",
          "icd11.foundation:533416539"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0017082"
    }
  ],
  "roots": [
    {
      "id": 17458,
      "label": "cephalocele"
    }
  ]
}