{
  "id": 17458,
  "label": "cephalocele",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017078",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 4427,
      "label": "congenital nervous system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6799
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2490",
          "ICD9:742",
          "MEDGEN:105425",
          "NCIT:C97172",
          "UMLS:C0497552"
        ],
        "synonyms": [
          "congenital abnormality of the nervous system",
          "congenital nervous system disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An abnormality of the nervous system that is present at birth or detected in the neonatal period."
      },
      "child_count": 217,
      "reference_id": "MONDO:0002320"
    },
    {
      "id": 20383,
      "label": "disorder of development or morphogenesis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29380
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "ICD10CM:Q00-Q99",
          "MEDGEN:1843482",
          "UMLS:C0694457"
        ],
        "definition": "Any disease or disorder that disrupts the process development of an anatomical structure. Can be due to genetic or environmental causes. Typically happens during embryogenesis, but also includes post-embryonic development."
      },
      "child_count": 190,
      "reference_id": "MONDO:0021147"
    }
  ],
  "children": [
    {
      "id": 16690,
      "label": "isolated encephalocele",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17458
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 5,
      "reference_id": "MONDO:0016057"
    },
    {
      "id": 17459,
      "label": "meningoencephalocele",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3392,
        7209,
        17458
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020968",
          "MEDGEN:82743",
          "NANDO:2200813",
          "NCIT:C124517",
          "Orphanet:268820",
          "SCTID:52330001",
          "UMLS:C0266456"
        ],
        "synonyms": [
          "brain meninx cephalocele (disease)",
          "cephalocele (disease) of brain meninx",
          "meningoencephalocele",
          "cranial meningocele",
          "encephalomeningocele"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A congenital abnormality in which the meninges protrude through a defect in the cranium."
      },
      "child_count": 0,
      "reference_id": "MONDO:0017079"
    }
  ],
  "roots": [
    {
      "id": 4427,
      "label": "congenital nervous system disorder"
    },
    {
      "id": 20383,
      "label": "disorder of development or morphogenesis"
    }
  ]
}