{
  "id": 14521,
  "label": "megalencephalic leukoencephalopathy with subcortical cysts 2A",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013490",
  "properties": {
    "xrefs": [
      "DOID:0080318",
      "GARD:0015728",
      "MEDGEN:462705",
      "OMIM:613925",
      "UMLS:C3151355"
    ],
    "synonyms": [
      "megalencephalic leukoencephalopathy with subcortical cysts 2A",
      "megalencephalic leukoencephalopathy with subcortical cysts type 2A",
      "MLC2A"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 12497,
      "label": "megalencephalic leukoencephalopathy with subcortical cysts",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2738,
        18952
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080315",
          "GARD:0003445",
          "MEDGEN:347006",
          "MESH:C536141",
          "NANDO:1200950",
          "NANDO:2200837",
          "Orphanet:2478",
          "SCTID:703536004",
          "UMLS:C1858854"
        ],
        "synonyms": [
          "MLC",
          "Vacuolating megalencephalic leukoencephalopathy with subcortical cysts",
          "Van der Knaap syndrome",
          "megalencephalic leukodystrophy",
          "megalencephalic leukoencephalopathy with subcortical cysts type 1",
          "megalencephaly-cystic leukodystrophy syndrome",
          "MLC1",
          "megalencephalic leukoencephalopathy with subcortical cysts 1",
          "megalencephaly-cystic leukodystrophy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a form of leukodystrophy that is characterized by infantile-onset macrocephaly, often with mild neurologic signs at presentation (such as mild motor delay), which worsen with time, leading to poor ambulation, falls, ataxia, spasticity, increasing seizures and cognitive decline. Brain magnetic resonance imaging reveals diffusely abnormal and mildly swollen white matter as well as subcortical cysts in the anterior temporal and frontoparietal regions."
      },
      "child_count": 6,
      "reference_id": "MONDO:0011391"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 12497,
      "label": "megalencephalic leukoencephalopathy with subcortical cysts"
    }
  ]
}