{
  "id": 24198,
  "label": "lissencephaly spectrum disorder with complex brainstem malformation",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100472",
  "properties": {
    "xrefs": [
      "GARD:0026233"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A lissencephaly spectrum disorder that manifests as posterior predominant pachygyria (ranging from mild severity to classic lissencephaly) and brainstem malformations which include brainstem dysplasia (typically with reduced anteroposterior thickness and transverse broadening of the pons/medulla) and midline crossing defects (anterior commissure, transverse pontine fibers, pyramidal tract, callosum hypoplasia)."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "parents": [
    {
      "id": 18774,
      "label": "lissencephaly spectrum disorders",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4427,
        20383,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050453",
          "GARD:0012291",
          "HP:0001339",
          "MEDGEN:78604",
          "MESH:D054082",
          "MedDRA:10048911",
          "NANDO:1200574",
          "NANDO:2200817",
          "NCIT:C103921",
          "NORD:1374",
          "OMIMPS:607432",
          "Orphanet:48471",
          "SCTID:204036008",
          "UMLS:C0266463"
        ],
        "synonyms": [
          "Lissencephaly",
          "lissencephaly",
          "lissencephaly (disease)",
          "lissencephaly spectrum disorders",
          "Broad gyri of cerebrum",
          "large gyri of cerebrum",
          "macrogyria",
          "pachygyria"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "The term lissencephaly covers a group of rare malformations sharing the common feature of anomalies in the appearance of brain convolutions (characterized by simplification or absence of folding) associated with abnormal organization of the cortical layers as a result of neuronal migration defects during embryogenesis."
      },
      "child_count": 42,
      "reference_id": "MONDO:0018838"
    }
  ],
  "children": [
    {
      "id": 22354,
      "label": "lissencephaly 9 with complex brainstem malformation",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        24198
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112228",
          "GARD:0018007",
          "MEDGEN:1681109",
          "OMIM:618325",
          "Orphanet:572013",
          "UMLS:C5193029"
        ],
        "synonyms": [
          "LIS9",
          "LISSENCEPHALY 9 WITH COMPLEX BRAINSTEM MALFORMATION"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0032677"
    }
  ],
  "roots": [
    {
      "id": 18774,
      "label": "lissencephaly spectrum disorders"
    }
  ]
}