{
    "disease_id": "DOID:0080316", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0024555", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0024555", 
            "name": "VL"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0024555", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0024555", 
            "name": "megalencephalic leukoencephalopathy with subcortical cysts 1; MLC1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0024555", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0024555", 
            "name": "Lvm"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0024555", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0024555", 
            "name": "leukoencephalopathy with swelling and cysts"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0024555", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0024555", 
            "name": "Van Der Knaap disease"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0024555", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0024555", 
            "name": "MLC1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0024555", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0024555", 
            "name": "Vacuolating megalencephalic leukoencephalopathy with subcortical cysts"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0080316", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0080316", 
            "name": "Van Der Knaap disease"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0080316", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0080316", 
            "name": "leukoencephalopathy with swelling and cysts"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0080316", 
        "description": "A megalencephalic leukoencephalopathy with subcortical cysts characterized by early-onset macrocephaly and delayed-onset neurologic deterioration, including cerebellar ataxia, spasticity, epilepsy, and mild cognitive decline, that has_material_basis_in homozygous or compound heterozygous mutation in MLC1 on chromosome 22q13.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0080316", 
        "name": "megalencephalic leukoencephalopathy with subcortical cysts 1"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0080316#disease-associations", 
            "id": "0080316", 
            "database": "Alliance of Genome Resources"
        }
    ]
}