{
  "id": 16335,
  "label": "congenital or early infantile CACH syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015519",
  "properties": {
    "xrefs": [
      "GARD:0016978",
      "MEDGEN:1842419",
      "Orphanet:157713",
      "UMLS:C5680650",
      "icd11.foundation:2136523495"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 4427,
      "label": "congenital nervous system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6799
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2490",
          "ICD9:742",
          "MEDGEN:105425",
          "NCIT:C97172",
          "UMLS:C0497552"
        ],
        "synonyms": [
          "congenital abnormality of the nervous system",
          "congenital nervous system disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An abnormality of the nervous system that is present at birth or detected in the neonatal period."
      },
      "child_count": 217,
      "reference_id": "MONDO:0002320"
    },
    {
      "id": 25036,
      "label": "leukoencephalopathy with vanishing white matter",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18952
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 9,
      "reference_id": "MONDO:0800448"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4427,
      "label": "congenital nervous system disorder"
    },
    {
      "id": 25036,
      "label": "leukoencephalopathy with vanishing white matter"
    }
  ]
}