{
  "id": 17471,
  "label": "cerebral cortical dysplasia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017094",
  "properties": {
    "xrefs": [
      "GARD:0020982",
      "MEDGEN:98129",
      "MESH:D054220",
      "NCIT:C42088",
      "Orphanet:268950",
      "SCTID:253153000",
      "UMLS:C0431380",
      "icd11.foundation:1352548261"
    ],
    "synonyms": [
      "brain cortical dysplasia",
      "cortical dysplasia"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Abnormalities in the development of the cerebral cortex. These include malformations arising from abnormal neuronal and glial cell proliferation or apoptosis (Group I); abnormal neuronal migration (Group ii); and abnormal establishment of cortical organization (Group iii). Many inborn metabolic brain disorders affecting cns formation are often associated with cortical malformations. They are common causes of epilepsy and developmental delay."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 7209,
      "label": "brain disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4657
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:936",
          "EFO:0005774",
          "ICD9:348.3",
          "ICD9:348.30",
          "ICD9:348.8",
          "ICD9:348.9",
          "MEDGEN:14214",
          "MESH:D001927",
          "NCIT:C96413",
          "SCTID:81308009",
          "UMLS:C0006111"
        ],
        "synonyms": [
          "brain disease",
          "brain disease or disorder",
          "disease of brain",
          "disease or disorder of brain",
          "disorder of brain",
          "encephalopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A disease affecting the brain or part of the brain."
      },
      "child_count": 71,
      "reference_id": "MONDO:0005560"
    },
    {
      "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": 17065,
      "label": "central bilateral macrogyria",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17471
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025078",
          "MEDGEN:929618",
          "Orphanet:2431",
          "SCTID:720632004",
          "UMLS:C4303949",
          "icd11.foundation:67804763"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Central bilateral macrogyria is a neuronal migration disorder characterized by pseudobulbar palsy, developmental delay, mild mental retardation and epilepsy. It has been described in at least four children."
      },
      "child_count": 0,
      "reference_id": "MONDO:0016572"
    },
    {
      "id": 18924,
      "label": "isolated focal cortical dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17471,
        24020
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016671",
          "MEDGEN:1645432",
          "NANDO:1200564",
          "Orphanet:65683",
          "SCTID:766710005",
          "UMLS:C4707795"
        ],
        "synonyms": [
          "epilepsy due to FCD"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Isolated focal cortical dysplasia is a rare, genetic, non-syndromic cerebral malformation due to abnormal neuronal migration disorder characterized by variable-sized, focalized malformations located in any part(s) of the cerebral cortex, which manifests with drug-resistant epilepsy (usually leading to intellectual disability) and behavioral disturbances. Abnormal MRI findings (e.g. abnormal white and/or gray matter signal, blurred gray-white matter junction, localized volume loss, cortical thickening, abnormal gyral pattern, abnormal hippocampus) and variable histopathologic patterns are associated."
      },
      "child_count": 4,
      "reference_id": "MONDO:0019009"
    }
  ],
  "roots": [
    {
      "id": 7209,
      "label": "brain disorder"
    },
    {
      "id": 20383,
      "label": "disorder of development or morphogenesis"
    }
  ]
}