{
  "id": 18801,
  "label": "cobblestone lissencephaly",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018869",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "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": 15086,
      "label": "cobblestone lissencephaly without muscular or ocular involvement",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18801
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014077"
    },
    {
      "id": 18395,
      "label": "muscle-eye-brain disease with bilateral multicystic leucodystrophy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18393,
        18801
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017608",
          "MEDGEN:1675257",
          "Orphanet:370997",
          "UMLS:C5191414"
        ],
        "synonyms": [
          "MEB disease with bilateral multicystic leucodystrophy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Muscle-eye-brain (MEB) disease with bilateral multicystic leucodystrophy is a form of congenital muscular alpha-dystroglycanopathy with brain and eye anomaly characterized by severe muscle-eye-brain disease-like phenotype associated with macrocephaly and extended bilateral multicystic white matter disease, overlapping with the cerebral findings in patients with megalencephalic leukoencephalopathy with subcortical cysts."
      },
      "child_count": 0,
      "reference_id": "MONDO:0018280"
    }
  ],
  "roots": [
    {
      "id": 18774,
      "label": "lissencephaly spectrum disorders"
    }
  ]
}