{
  "id": 3180,
  "label": "complex cortical dysplasia with other brain malformations",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0000904",
  "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"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 12,
  "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"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6799
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "neurogenetic disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology characterized by abnormalities in the brain, spinal cord, nerves, or muscles."
      },
      "child_count": 528,
      "reference_id": "MONDO:0100545"
    }
  ],
  "children": [
    {
      "id": 13450,
      "label": "complex cortical dysplasia with other brain malformations 7",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3180,
        16087,
        16761
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0090132",
          "GARD:0017375",
          "MEDGEN:765150",
          "OMIM:610031",
          "Orphanet:300573",
          "UMLS:C3552236"
        ],
        "synonyms": [
          "CDCBM7",
          "TUBB2B complex cortical dysplasia with other brain malformations",
          "complex cortical dysplasia with other brain malformations caused by mutation in TUBB2B",
          "complex cortical dysplasia with other brain malformations type 7",
          "polymicrogyria due to TUBB2B mutation",
          "PMGYSA",
          "cortical dysplasia, COMPLEX, with OTHER brain malformations 7",
          "cortical dysplasia, Complex, with Other brain malformations 7",
          "polymicrogyria, symmetric or asymmetric"
        ],
        "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 TUBB2B gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012399"
    },
    {
      "id": 14208,
      "label": "polymicrogyria with optic nerve hypoplasia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3180
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020687",
          "MEDGEN:442565",
          "MESH:C567715",
          "OMIM:613180",
          "Orphanet:250972",
          "UMLS:C2750798"
        ],
        "synonyms": [
          "polymicrogyria with optic nerve hypoplasia",
          "CDCBM8",
          "cortical dysplasia, Complex, with Other brain malformations 8",
          "cortical dysplasia, complex, with other brain malformations 8"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare genetic syndrome with central nervous system malformations characterized by severe developmental delay, neonatal hypotonia, seizures, optic nerve hypoplasia and distinct central nervous system malformations including extensive bilateral polymicrogyria, dysplastic or absent corpus callosum and malformed brainstem with loss of demarcation of the pontomedullary junction."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013172"
    },
    {
      "id": 14569,
      "label": "complex cortical dysplasia with other brain malformations 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3180
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0090137",
          "GARD:0013032",
          "MEDGEN:814727",
          "OMIM:614039",
          "Orphanet:300570",
          "UMLS:C3808397"
        ],
        "synonyms": [
          "CDCBM1",
          "TUBB3 complex cortical dysplasia with other brain malformations",
          "complex cortical dysplasia with other brain malformations caused by mutation in TUBB3",
          "complex cortical dysplasia with other brain malformations type 1",
          "cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation",
          "cortical dysplasia, Complex, with Other brain malformations type 1",
          "cortical dysplasia, complex, with other brain malformations 1"
        ],
        "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 TUBB3 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013541"
    },
    {
      "id": 15124,
      "label": "complex cortical dysplasia with other brain malformations 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3180
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0090133",
          "MEDGEN:815343",
          "OMIM:615282",
          "UMLS:C3809013"
        ],
        "synonyms": [
          "CDCBM2",
          "KIF5C complex cortical dysplasia with other brain malformations",
          "complex cortical dysplasia with other brain malformations caused by mutation in KIF5C",
          "complex cortical dysplasia with other brain malformations type 2",
          "cortical dysplasia, Complex, with Other brain malformations type 2",
          "cortical dysplasia, complex, with other brain malformations 2"
        ],
        "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 KIF5C gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014116"
    },
    {
      "id": 15177,
      "label": "complex cortical dysplasia with other brain malformations 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3180
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0090134",
          "MEDGEN:815744",
          "OMIM:615411",
          "UMLS:C3809414"
        ],
        "synonyms": [
          "CDCBM3",
          "KIF2A complex cortical dysplasia with other brain malformations",
          "complex cortical dysplasia with other brain malformations caused by mutation in KIF2A",
          "complex cortical dysplasia with other brain malformations type 3",
          "cortical dysplasia, Complex, with Other brain malformations type 3",
          "cortical dysplasia, complex, with other brain malformations 3"
        ],
        "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 KIF2A gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014170"
    },
    {
      "id": 15178,
      "label": "complex cortical dysplasia with other brain malformations 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3180
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0090138",
          "MEDGEN:815750",
          "OMIM:615412",
          "UMLS:C3809420"
        ],
        "synonyms": [
          "CDCBM4",
          "TUBG1 complex cortical dysplasia with other brain malformations",
          "complex cortical dysplasia with other brain malformations caused by mutation in TUBG1",
          "complex cortical dysplasia with other brain malformations type 4",
          "cortical dysplasia, Complex, with Other brain malformations type 4",
          "cortical dysplasia, complex, with other brain malformations 4"
        ],
        "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 TUBG1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014171"
    },
    {
      "id": 15339,
      "label": "complex cortical dysplasia with other brain malformations 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3180,
        23895,
        24226,
        24241
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014337"
    },
    {
      "id": 15343,
      "label": "complex cortical dysplasia with other brain malformations 6",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3180
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0090136",
          "MEDGEN:862720",
          "OMIM:615771",
          "UMLS:C4014283"
        ],
        "synonyms": [
          "TUBB complex cortical dysplasia with other brain malformations",
          "complex cortical dysplasia with other brain malformations caused by mutation in TUBB",
          "complex cortical dysplasia with other brain malformations type 6",
          "cortical dysplasia, Complex, with Other brain malformations type 6",
          "CDCBM6",
          "cortical dysplasia, complex, with other brain malformations 6"
        ],
        "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 TUBB gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014341"
    },
    {
      "id": 22268,
      "label": "cortical dysplasia, complex, with other brain malformations 9",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3180
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061138",
          "MEDGEN:1648399",
          "OMIM:618174",
          "UMLS:C4748540"
        ],
        "synonyms": [
          "CDCBM9",
          "CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0032578"
    },
    {
      "id": 22518,
      "label": "cortical dysplasia, complex, with other brain malformations 10",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3180
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061143",
          "MEDGEN:1684859",
          "OMIM:618677",
          "UMLS:C5231458"
        ],
        "synonyms": [
          "CDCBM10",
          "CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0032866"
    },
    {
      "id": 25464,
      "label": "cortical dysplasia, complex, with other brain malformations 11",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3180
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061142",
          "MEDGEN:1824043",
          "OMIM:620156",
          "UMLS:C5774270"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0859332"
    },
    {
      "id": 25610,
      "label": "cortical dysplasia, complex, with other brain malformations 12",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3180
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061141",
          "MEDGEN:1841043",
          "OMIM:620316",
          "UMLS:C5830407"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0957217"
    }
  ],
  "roots": [
    {
      "id": 7209,
      "label": "brain disorder"
    },
    {
      "id": 20383,
      "label": "disorder of development or morphogenesis"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease"
    }
  ]
}