{
  "id": 18924,
  "label": "isolated focal cortical dysplasia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019009",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 17471,
      "label": "cerebral cortical dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7209,
        20383
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 4,
      "reference_id": "MONDO:0017094"
    },
    {
      "id": 24020,
      "label": "overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19709
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026123"
        ],
        "synonyms": [
          "overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A disease caused by mosaic gain-of-function (GoF) of several genes in the MTOR pathway (MTOR, PIK3CA, PIK3R2 and AKT3) are functionally the same despite significant phenotypic variability. These GoF variants result in overgrowth due to an over-activation of key genes in this pathway. The phenotypic variability is generally attributed to the mosaic fraction and affected tissue types. For example, macrocephaly is noted if the variant is identified in the brain, but non symmetric overgrowth of that limb is noted when the variant is only present in the affected limb. The pathologies of the affected tissue often reveal similar characteristics such as cellular overgrowth. However, this is not always the case especially with focal cortical dysplasia. At times the characteristics pathologies are not present in the tissue but sampling biases are an issue. FCD resections often involve a very small area and so a very small amount of tissue is available for pathology and it is not guaranteed that lesional tissue is sent. Therefore, having a single disease term which can encompass the phenotypic variability yet provide a unifying molecular diagnosis name makes sense given the common functional mechanism."
      },
      "child_count": 5,
      "reference_id": "MONDO:0100283"
    }
  ],
  "children": [
    {
      "id": 12899,
      "label": "isolated focal cortical dysplasia type II",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18924
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0010190",
          "MEDGEN:339510",
          "MESH:C537067",
          "OMIM:607341",
          "Orphanet:268994",
          "UMLS:C1846385"
        ],
        "synonyms": [
          "FCD type II",
          "cortical dysplasia, Taylor type",
          "focal cortical dysplasia, type II, somatic",
          "isolated focal cortical dysplasia type 2",
          "CDT",
          "FCD 2A",
          "FCD 2B",
          "FCDT",
          "FCORD2",
          "Fcd2",
          "cortical dysplasia of Taylor",
          "cortical dysplasia of Taylor with balloon cells",
          "cortical dysplasia of Taylor without balloon cells",
          "cortical dysplasia of Taylor, dysplasia only",
          "focal cortical dysplasia of Taylor",
          "focal cortical dysplasia of Taylor, type 2A",
          "focal cortical dysplasia of Taylor, type 2B",
          "focal cortical dysplasia type 2",
          "focal cortical dysplasia type II",
          "focal cortical dysplasia, type 2",
          "focal cortical dysplasia, type 2A",
          "focal cortical dysplasia, type 2B",
          "focal cortical dysplasia, type II"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 2,
      "reference_id": "MONDO:0011818"
    },
    {
      "id": 17472,
      "label": "isolated focal cortical dysplasia type I",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18924
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020983",
          "MEDGEN:1843077",
          "Orphanet:268961",
          "UMLS:C5679772"
        ],
        "synonyms": [
          "FCD type I"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 3,
      "reference_id": "MONDO:0017095"
    }
  ],
  "roots": [
    {
      "id": 17471,
      "label": "cerebral cortical dysplasia"
    },
    {
      "id": 24020,
      "label": "overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes"
    }
  ]
}