{
  "id": 2738,
  "label": "leukoencephalopathy, megalencephalic",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0000137",
  "properties": {
    "xrefs": [
      "OMIMPS:604004"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 7209,
      "label": "brain disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4657
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:936",
          "EFO:0005774",
          "ICD9:348.3",
          "ICD9:348.30",
          "ICD9:348.8",
          "ICD9:348.9",
          "MEDGEN:14214",
          "MESH:D001927",
          "NCIT:C96413",
          "SCTID:81308009",
          "UMLS:C0006111"
        ],
        "synonyms": [
          "brain disease",
          "brain disease or disorder",
          "disease of brain",
          "disease or disorder of brain",
          "disorder of brain",
          "encephalopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A disease affecting the brain or part of the brain."
      },
      "child_count": 71,
      "reference_id": "MONDO:0005560"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6799
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "neurogenetic disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology characterized by abnormalities in the brain, spinal cord, nerves, or muscles."
      },
      "child_count": 528,
      "reference_id": "MONDO:0100545"
    }
  ],
  "children": [
    {
      "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"
    },
    {
      "id": 25705,
      "label": "megalencephalic leukoencephalopathy with subcortical cysts 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2738
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:1841261",
          "OMIM:620447",
          "UMLS:C5830625"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0957533"
    },
    {
      "id": 25706,
      "label": "megalencephalic leukoencephalopathy with subcortical cysts 4, remitting",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2738
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:1841264",
          "OMIM:620448",
          "UMLS:C5830628"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0957534"
    }
  ],
  "roots": [
    {
      "id": 7209,
      "label": "brain disorder"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease"
    }
  ]
}