{
  "id": 13450,
  "label": "complex cortical dysplasia with other brain malformations 7",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012399",
  "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."
  },
  "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": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18951
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019832",
          "MEDGEN:1826158",
          "Orphanet:102283",
          "UMLS:C5680372"
        ],
        "synonyms": [
          "MCA/MR",
          "multiple congenital anomalies-intellectual disability with or without dysmorphism",
          "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
        ]
      },
      "child_count": 338,
      "reference_id": "MONDO:0015159"
    },
    {
      "id": 16761,
      "label": "bilateral frontal polymicrogyria",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17468
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080921",
          "GARD:0010783",
          "MEDGEN:1754014",
          "Orphanet:208444",
          "UMLS:C5437679",
          "icd11.foundation:688947844"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Bilateral frontal polymicrogyria is one of the rarest subtypes of polymicrogyria. It is a symmetric and bilateral form (in both brain hemispheres) that only involves the frontal lobes without including the area located behind the Sylvius fissure or the area located behind the Rolando sulcus. Some researchers classify the condition into two different forms: bilateral frontal polymicrogyriaand the bilateral frontoparietal. Signs and symptoms included delayed motor and language milestones; spastic (stiffness) hemiparesis (weakness in one side of the body) or quadriparesis (weakness in all four limbs of the body); and mild to moderate intellectual disability. Seizures mayalsobe present. The frontoparietal form is caused by changes (mutations) in the GPR56 gene but the cause for the frontal form of polymicrogyira is still not known. Treatment is based on the signs and symptoms present in each person."
      },
      "child_count": 1,
      "reference_id": "MONDO:0016162"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 3180,
      "label": "complex cortical dysplasia with other brain malformations"
    },
    {
      "id": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
    },
    {
      "id": 16761,
      "label": "bilateral frontal polymicrogyria"
    }
  ]
}