{
  "id": 15339,
  "label": "complex cortical dysplasia with other brain malformations 5",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014337",
  "properties": {
    "xrefs": [
      "DOID:0090135",
      "GARD:0027070",
      "GARD:0027859",
      "MEDGEN:816737",
      "OMIM:615763",
      "UMLS:C3810407"
    ],
    "synonyms": [
      "CDCBM5",
      "TUBB2A complex cortical dysplasia with other brain malformations",
      "TUBB2A-related tubulinopathy",
      "complex cortical dysplasia with other brain malformations caused by mutation in TUBB2A",
      "complex cortical dysplasia with other brain malformations type 5",
      "cortical dysplasia, Complex, with Other brain malformations type 5",
      "cortical dysplasia, complex, with other brain malformations 5"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB2A gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 3180,
      "label": "complex cortical dysplasia with other brain malformations",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7209,
        20383,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0090131",
          "OMIMPS:614039"
        ],
        "synonyms": [
          "complex cortical dysplasia with other brain malformations",
          "cortical dysplasia, complex, with other brain malformations"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 36,
      "reference_id": "MONDO:0000904"
    },
    {
      "id": 23895,
      "label": "tubulinopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6799
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112227"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A nervous system disorder characterized by complex cortical malformations including in most cases dysmorphic basal ganglia and/or corpus callosum in which the cause of the disease is a variation in a tubulin gene."
      },
      "child_count": 4,
      "reference_id": "MONDO:0100153"
    },
    {
      "id": 24226,
      "label": "Mendelian neurodevelopmental disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        24270,
        24488
      ],
      "type_id": 0,
      "properties": {
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A neurodevelopmental disorder that is caused by genetic modifications where those modifications are inherited from a parent's genome."
      },
      "child_count": 550,
      "reference_id": "MONDO:0100500"
    },
    {
      "id": 24241,
      "label": "complex neurodevelopmental disorder with motor features",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        23791
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027067"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A complex neurodevelopmental disorder that involves more than one phenotype associated with the central nervous system, including but not limited to intellectual disability, autism, and seizures (epilepsy). Additionally, the disorder features at least one phenotype associated with motor function, including but not limited to spasticity, hypo- or hypertonia, dyskinesia, choreo-athetosis, or ataxia."
      },
      "child_count": 4,
      "reference_id": "MONDO:0100516"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 3180,
      "label": "complex cortical dysplasia with other brain malformations"
    },
    {
      "id": 23895,
      "label": "tubulinopathy"
    },
    {
      "id": 24226,
      "label": "Mendelian neurodevelopmental disorder"
    },
    {
      "id": 24241,
      "label": "complex neurodevelopmental disorder with motor features"
    }
  ]
}