{
  "id": 12497,
  "label": "megalencephalic leukoencephalopathy with subcortical cysts",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011391",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 2738,
      "label": "leukoencephalopathy, megalencephalic",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7209,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "OMIMPS:604004"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 6,
      "reference_id": "MONDO:0000137"
    },
    {
      "id": 18952,
      "label": "leukodystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        21292
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050987",
          "DOID:0060786",
          "DOID:10579",
          "GARD:0006895",
          "ICD9:330.0",
          "MEDGEN:6070",
          "MedDRA:10024381",
          "NANDO:1200575",
          "NANDO:2200836",
          "NCIT:C61253",
          "NORD:1367",
          "OMIMPS:312080",
          "Orphanet:68356",
          "SCTID:192781003",
          "UMLS:C0023520",
          "icd11.foundation:468040251"
        ],
        "synonyms": [
          "hypomyelinating leukodystrophy",
          "hypomyelinating leukoencephalopathy",
          "leukodystrophy, hypomyelinating"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Leukodystrophies are a group of rare, progressive, metabolic, genetic diseases that affect the brain, spinal cord and often the peripheral nerves. Each type of leukodystrophy is caused by a specific gene abnormality that leads to abnormal development or destruction of the white matter (myelin sheath) of the brain. The myelin sheath is the protective covering of the nerve and nerves can't function normally without it. Each type of leukodystrophy affects a different part of the myelin sheath, leading to a range of neurological problems."
      },
      "child_count": 65,
      "reference_id": "MONDO:0019046"
    }
  ],
  "children": [
    {
      "id": 14521,
      "label": "megalencephalic leukoencephalopathy with subcortical cysts 2A",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        12497
      ],
      "type_id": 0,
      "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"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0013490"
    },
    {
      "id": 14522,
      "label": "megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        12497
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080317",
          "GARD:0015729",
          "MEDGEN:462706",
          "OMIM:613926",
          "UMLS:C3151356"
        ],
        "synonyms": [
          "megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability",
          "megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation",
          "MLC2B"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0013491"
    },
    {
      "id": 21500,
      "label": "megalencephalic leukoencephalopathy with subcortical cysts 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        12497
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080316",
          "GARD:0025430",
          "MEDGEN:1826136",
          "OMIM:604004",
          "UMLS:C5779875"
        ],
        "synonyms": [
          "megalencephalic leukoencephalopathy with subcortical cysts",
          "megalencephalic leukoencephalopathy with subcortical cysts 1",
          "Lvm",
          "MLC1",
          "VL",
          "Vacuolating megalencephalic leukoencephalopathy with subcortical cysts",
          "Van Der Knaap disease",
          "leukoencephalopathy with swelling and cysts"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0024555"
    }
  ],
  "roots": [
    {
      "id": 2738,
      "label": "leukoencephalopathy, megalencephalic"
    },
    {
      "id": 18952,
      "label": "leukodystrophy"
    }
  ]
}