{
    "disease_id": "DOID:0070374",
    "recommended_name": {
        "id": "DOID:0070374",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0070374",
        "name": "leukoencephalopathy with vanishing white matter 1",
        "description": "A leukoencephalopathy with vanishing white matter that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2B1 gene on chromosome 12q24."
    },
    "synonyms": [
        {
            "id": "MONDO:0011380",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011380",
            "name": "leukoencephalopathy with vanishing white matter",
            "description": "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."
        },
        {
            "id": "MONDO:0011380",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011380",
            "name": "CACH",
            "description": ""
        },
        {
            "id": "MONDO:0011380",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011380",
            "name": "childhood ataxia with central nervous system hypomyelination",
            "description": ""
        },
        {
            "id": "MONDO:0011380",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011380",
            "name": "childhood ataxia with diffuse central nervous system hypomyelination",
            "description": ""
        },
        {
            "id": "MONDO:0011380",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011380",
            "name": "leukoencephalopathy with vanishing white matter",
            "description": ""
        },
        {
            "id": "MONDO:0011380",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011380",
            "name": "myelinosis centralis diffusa",
            "description": ""
        },
        {
            "id": "MONDO:0011380",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011380",
            "name": "vanishing white matter leukodystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0011380",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011380",
            "name": "Cree leukoencephalopathy",
            "description": ""
        },
        {
            "id": "MONDO:0011380",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011380",
            "name": "CACH syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011380",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011380",
            "name": "CACH/VWM",
            "description": ""
        },
        {
            "id": "MONDO:0011380",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011380",
            "name": "CACH/VWM syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011380",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011380",
            "name": "Cree leukoencehalopathy",
            "description": ""
        },
        {
            "id": "MONDO:0011380",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011380",
            "name": "VWM",
            "description": ""
        },
        {
            "id": "MONDO:0011380",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011380",
            "name": "childhood ataxia with central nervous system hypomyelination/vanishing white matter",
            "description": ""
        },
        {
            "id": "MONDO:0011380",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011380",
            "name": "childhood ataxia with central nervous system hypomyelinization",
            "description": ""
        },
        {
            "id": "MONDO:0011380",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011380",
            "name": "leukoencephalopathy with vanishing WHITE matter",
            "description": ""
        },
        {
            "id": "MONDO:0011380",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011380",
            "name": "ovarioleukodystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0011380",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011380",
            "name": "vanishing White matter leukodystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0011380",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011380",
            "name": "vanishing White matter leukodystrophy with ovarian failure",
            "description": ""
        },
        {
            "id": "MONDO:0011380",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011380",
            "name": "vanishing white matter disease",
            "description": ""
        },
        {
            "id": "MIM:603896",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/603896",
            "name": "Leukodystrophy with vanishing white matter",
            "description": "Leukodystrophy with vanishing white matter"
        }
    ]
}