{
  "id": 16761,
  "label": "bilateral frontal polymicrogyria",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016162",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "parents": [
    {
      "id": 17468,
      "label": "bilateral polymicrogyria",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2720
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017269",
          "MEDGEN:1647593",
          "Orphanet:268940",
          "SCTID:765757003",
          "UMLS:C4707565",
          "icd11.foundation:422828750"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Bilateral polymicrogyria is a rare cerebral malformation due to abnormal neuronal migration defined as a cerebral cortex with many excessively small convolutions. It presents with developmental delay, intellectual disability, seizures and various neurological impairments and may be isolated or comprise a clinical feature of many genetic syndromes. It may also be associated with perinatal cytomegalovirus infection."
      },
      "child_count": 5,
      "reference_id": "MONDO:0017091"
    }
  ],
  "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"
    }
  ],
  "roots": [
    {
      "id": 17468,
      "label": "bilateral polymicrogyria"
    }
  ]
}