{
  "id": 17468,
  "label": "bilateral polymicrogyria",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017091",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 5,
  "parents": [
    {
      "id": 2720,
      "label": "polymicrogyria",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4427
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080918",
          "GARD:0018818",
          "MEDGEN:78605",
          "MESH:D065706",
          "NANDO:1201071",
          "NCIT:C116936",
          "Orphanet:35981",
          "SCTID:4945003",
          "UMLS:C0266464",
          "icd11.foundation:2081858551"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A developmental brain abnormality characterized by an excessive amount of small convolutions on the surface of the brain and cognitive dysfunction."
      },
      "child_count": 2,
      "reference_id": "MONDO:0000087"
    }
  ],
  "children": [
    {
      "id": 12825,
      "label": "bilateral frontoparietal polymicrogyria",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17468,
        24270
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011738"
    },
    {
      "id": 14026,
      "label": "bilateral parasagittal parieto-occipital polymicrogyria",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17468,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080923",
          "GARD:0010785",
          "MEDGEN:862085",
          "MESH:C567201",
          "OMIM:612691",
          "Orphanet:208441",
          "UMLS:C4013648",
          "icd11.foundation:293410499"
        ],
        "synonyms": [
          "BTOP",
          "polymicrogyria, bilateral temporooccipital"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0012986"
    },
    {
      "id": 14919,
      "label": "bilateral generalized polymicrogyria",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17468,
        18729,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080920",
          "GARD:0010786",
          "MEDGEN:1684616",
          "Orphanet:208447",
          "UMLS:C5139324"
        ],
        "synonyms": [
          "bilateral generalized polymicrogyria",
          "microcephaly, short stature, and polymicrogyria with seizures",
          "MSSP",
          "PMGYS",
          "microcephaly, short stature, and polymicrogyria with or without seizures",
          "polymicrogyria with seizures"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Bilateral generalized polymicrogyria is a rare neurological disorder that affects the cerebral cortex (the outer surface of the brain). This is the most widespread form of polymicrogyria and typically affects the entire surface of the brain. Signs and symptoms include severe intellectual disability, problems with movement, and seizures that are difficult or impossible to treat. While the exact cause of bilateral generalized polymicrogyria is not fully understood, it is thought to be due to improper brain development during embryonic growth. Most cases appear to follow an autosomal recessive pattern of inheritance. Treatment is based on the signs and symptoms present in each person."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013907"
    },
    {
      "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"
    },
    {
      "id": 19807,
      "label": "bilateral perisylvian polymicrogyria",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17468
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080924",
          "GARD:0006011",
          "MEDGEN:337000",
          "Orphanet:98889",
          "UMLS:C1845668",
          "icd11.foundation:1882677643"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 3,
      "reference_id": "MONDO:0020340"
    }
  ],
  "roots": [
    {
      "id": 2720,
      "label": "polymicrogyria"
    }
  ]
}