{
  "id": 15086,
  "label": "cobblestone lissencephaly without muscular or ocular involvement",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014077",
  "properties": {
    "xrefs": [
      "DOID:0112230",
      "GARD:0017526",
      "MEDGEN:767571",
      "OMIM:615191",
      "Orphanet:352682",
      "UMLS:C3554657"
    ],
    "synonyms": [
      "cobblestone lissencephaly without muscular or eye involvement",
      "cobblestone lissencephaly without muscular or ocular involvement",
      "lissencephaly type 2 without muscular or eye involvement",
      "lissencephaly type 2 without muscular or ocular involvement",
      "lissencephaly type 5",
      "LIS5",
      "lissencephaly 5"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Cobblestone lissencephaly without muscular or ocular involvement is a form of cobblestone lissencephaly characterized by a constellation of brain malformations which can either exist alone or in conjunction with minimal muscular and ocular abnormalities. The clinical features of the disease include severe developmental delay, increased head circumference, hydrocephalus and seizures."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 18801,
      "label": "cobblestone lissencephaly",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18774
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0003277",
          "MEDGEN:96562",
          "MESH:D054222",
          "NANDO:1201072",
          "Orphanet:51577",
          "SCTID:253149002",
          "UMLS:C0431376"
        ],
        "synonyms": [
          "lissencephaly type 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Cobblestone lissencephaly is a rare central nervous system malformation which includes a group of diseases that are characterized by a bumpy (or pebbled) appearance of the cerebral cortex, associated with a thickened cortex, reduction in normal sulcation, ventriculomegaly and reduced, abnormal white matter, as well as brainstem and cerebellum hypoplasia and corpus callosum agenesis. Patients generally present variable degrees of developmental delay, hypotonia and ocular abnomalities, however muscular and ocular involvement may be absent."
      },
      "child_count": 2,
      "reference_id": "MONDO:0018869"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18801,
      "label": "cobblestone lissencephaly"
    }
  ]
}