{
    "disease_id": "DOID:0080317",
    "recommended_name": {
        "id": "DOID:0080317",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080317",
        "name": "megalencephalic leukoencephalopathy with subcortical cysts 2B",
        "description": "A megalencephalic leukoencephalopathy with subcortical cysts characterized by infantile-onset macrocephaly and mildly delayed motor development associated with white matter abnormalities that improve with age, and sometimes mental retardation that has_material_basis_in heterozygous mutation in the HEPACAM gene on chromosome 11q24."
    },
    "synonyms": [
        {
            "id": "DOID:0080317",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080317",
            "name": "megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation",
            "description": ""
        },
        {
            "id": "MONDO:0013491",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013491",
            "name": "megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0013491",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013491",
            "name": "megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0013491",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013491",
            "name": "megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation",
            "description": ""
        },
        {
            "id": "MONDO:0013491",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013491",
            "name": "MLC2B",
            "description": ""
        },
        {
            "id": "MIM:613926",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613926",
            "name": "Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without impaired intellectual development",
            "description": "Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without impaired intellectual development"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080317"
    ],
    "unlinked_id_list": []
}