{
  "id": 12825,
  "label": "bilateral frontoparietal polymicrogyria",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011738",
  "properties": {
    "xrefs": [
      "DOID:0080922",
      "GARD:0010784",
      "MEDGEN:376107",
      "MESH:C564652",
      "NCIT:C148367",
      "OMIM:606854",
      "Orphanet:101070",
      "UMLS:C1847352",
      "icd11.foundation:1119484699"
    ],
    "synonyms": [
      "bilateral frontoparietal polymicrogyria",
      "BFPP",
      "cerebellar ataxia with neuronal migration defect",
      "polymicrogyria, bilateral frontoparietal"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A descriptive term reflecting increased gyral folding in the frontoparietal regions as determined by magnetic resonance imaging. It has subsequently been shown to represent a cobblestone malformation on histopathology. BFPP typically presents with hypotonia, developmental delay, moderate to severe intellectual disability, pyramidal signs, epileptic seizures, non-progressive cerebellar ataxia, deconjugate gaze, and/or strabismus."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "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"
    },
    {
      "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": [],
  "roots": [
    {
      "id": 17468,
      "label": "bilateral polymicrogyria"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease"
    }
  ]
}