{
  "id": 14919,
  "label": "bilateral generalized polymicrogyria",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013907",
  "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."
  },
  "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": 18729,
      "label": "microcephalic primordial dwarfism due to RTTN deficiency",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        24802
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017841",
          "MEDGEN:766745",
          "OMIM:614833",
          "Orphanet:468631",
          "UMLS:C3553831"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Microcephalic primordial dwarfism due to RTTN deficiency is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by primary microcephaly, profound short stature, moderate to severe intellectual disability, global developmental delay, craniofacial dysmorphism (e.g. sloping forehead, high and broad nasal bridge) and variable brain malformations, including simplified gyration, pachygyria, polymicrogyria, reduced sulcation, dysgenesis of corpus callosum and deformed ventricles. Renal anomalies, bilateral hearing loss, multiple joint contractures, severe failure to thrive and a sacral lesion cephalad to the gluteal crease have also been reported."
      },
      "child_count": 2,
      "reference_id": "MONDO:0018764"
    },
    {
      "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": 18729,
      "label": "microcephalic primordial dwarfism due to RTTN deficiency"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease"
    }
  ]
}