{
  "id": 25036,
  "label": "leukoencephalopathy with vanishing white matter",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0800448",
  "properties": {
    "xrefs": [
      "DOID:0060868",
      "GARD:0000231",
      "MEDGEN:347037",
      "NCIT:C122664",
      "OMIMPS:603896",
      "Orphanet:135",
      "SCTID:447351004",
      "UMLS:C1858991"
    ],
    "synonyms": [
      "childhood ataxia with diffuse central nervous system hypomyelination",
      "leukoencephalopathy with vanishing white matter",
      "myelinosis centralis diffusa",
      "Cree leukoencephalopathy",
      "CACH syndrome",
      "CACH/VWM",
      "CACH/VWM syndrome",
      "VWM",
      "childhood ataxia with central nervous system hypomyelination/vanishing white matter",
      "childhood ataxia with central nervous system hypomyelinization",
      "leukoencephalopathy with vanishing WHITE matter",
      "vanishing White matter leukodystrophy",
      "vanishing White matter leukodystrophy with ovarian failure",
      "vanishing white matter disease",
      "vanishing white matter leukodystrophy"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A new leukoencephalopathy, the CACH syndrome (Childhood Ataxia with Central nervous system Hypomyelination) or VWM (Vanishing White Matter) was identified on clinical and MRI criteria. Classically, this disease is characterized by (1) an onset between 2 and 5 years of age, with a cerebello-spastic syndrome exacerbated by episodes of fever or head trauma leading to death after 5 to 10 years of disease evolution, (2) a diffuse involvement of the white matter on cerebral MRI with a CSF-like signal intensity (cavitation), (3) a recessive autosomal mode of inheritance, (4) neuropathologic findings consistent with a cavitating orthochromatic leukodystrophy with increased number of oligodendrocytes with sometimes \"foamy'' aspect."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 9,
  "parents": [
    {
      "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": 15389,
      "label": "leukoencephalopathy, progressive, with ovarian failure",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        25036
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070396",
          "GARD:0018252",
          "MEDGEN:863025",
          "NANDO:1200952",
          "OMIM:615889",
          "UMLS:C4014588"
        ],
        "synonyms": [
          "leukoencephalopathy, progressive, with ovarian failure",
          "LKENP"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0014387"
    },
    {
      "id": 16335,
      "label": "congenital or early infantile CACH syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4427,
        25036
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016978",
          "MEDGEN:1842419",
          "Orphanet:157713",
          "UMLS:C5680650",
          "icd11.foundation:2136523495"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0015519"
    },
    {
      "id": 16336,
      "label": "late infantile CACH syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        25036
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016979",
          "MEDGEN:1826172",
          "Orphanet:157716",
          "UMLS:C5680648",
          "icd11.foundation:1635638032"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0015520"
    },
    {
      "id": 16337,
      "label": "juvenile or adult CACH syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        25036
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016980",
          "MEDGEN:1826173",
          "Orphanet:157719",
          "UMLS:C5680649",
          "icd11.foundation:1400114953"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0015521"
    },
    {
      "id": 19958,
      "label": "leukoencephalopathy with vanishing white matter 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        25036
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070374",
          "GARD:0016919",
          "MEDGEN:1830482",
          "OMIM:603896",
          "Orphanet:99854",
          "UMLS:C5779972"
        ],
        "synonyms": [
          "CACH",
          "childhood ataxia with central nervous system hypomyelinization",
          "vanishing white matter leukodystrophy",
          "Cree leukoencephalopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any leukoencephalopathy with vanishing white matter in which the cause of the disease is a variation in the EIF2B1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0020507"
    },
    {
      "id": 25760,
      "label": "leukoencephalopathy with vanishing white matter 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        25036
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070373",
          "GARD:0026884",
          "MEDGEN:1841040",
          "OMIM:620312",
          "UMLS:C5830404"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0957870"
    },
    {
      "id": 25761,
      "label": "leukoencephalopathy with vanishing white matter 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        25036
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070372",
          "GARD:0026885",
          "MEDGEN:1841041",
          "OMIM:620313",
          "UMLS:C5830405"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0957871"
    },
    {
      "id": 25762,
      "label": "leukoencephalopathy with vanishing white matter 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        25036
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070371",
          "GARD:0026886",
          "MEDGEN:1841042",
          "OMIM:620314",
          "UMLS:C5830406"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0957872"
    },
    {
      "id": 25763,
      "label": "leukoencephalopathy with vanishing white matter 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        25036
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070367",
          "GARD:0026887",
          "MEDGEN:1830483",
          "OMIM:620315",
          "UMLS:C5779973"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0957873"
    }
  ],
  "roots": [
    {
      "id": 18952,
      "label": "leukodystrophy"
    }
  ]
}