{
    "disease_id": "DOID:0080417",
    "recommended_name": {
        "id": "DOID:0080417",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080417",
        "name": "early infantile epileptic encephalopathy 38",
        "description": "An early infantile epileptic encephalopathy that has_material_basis_in homozygous mutation in the ARV1 gene on chromosome 1q42."
    },
    "synonyms": [
        {
            "id": "MONDO:0014868",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014868",
            "name": "epileptic encephalopathy, early infantile, 38",
            "description": "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the ARV1 gene."
        },
        {
            "id": "MONDO:0014868",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014868",
            "name": "ARV1 early infantile epileptic encephalopathy",
            "description": ""
        },
        {
            "id": "MONDO:0014868",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014868",
            "name": "epileptic encephalopathy, early infantile, 38",
            "description": ""
        },
        {
            "id": "MONDO:0014868",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014868",
            "name": "EIEE38",
            "description": ""
        },
        {
            "id": "MONDO:0014868",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014868",
            "name": "epileptic encephalopathy, early infantile, type 38",
            "description": ""
        },
        {
            "id": "MONDO:0014868",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014868",
            "name": "early infantile epileptic encephalopathy caused by mutation in ARV1",
            "description": ""
        },
        {
            "id": "MONDO:0014868",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014868",
            "name": "epileptic encephalopathy, early infantile, 38; EIEE38",
            "description": ""
        },
        {
            "id": "MIM:617020",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617020",
            "name": "Developmental and epileptic encephalopathy 38",
            "description": "Developmental and epileptic encephalopathy 38"
        }
    ]
}