{
    "disease_id": "DOID:0070376",
    "recommended_name": {
        "id": "DOID:0070376",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0070376",
        "name": "developmental and epileptic encephalopathy 31B",
        "description": "A developmental and epileptic encephalopathy characterized by early-onset epilepsy, generalized muscular hypotonia, visual impairment, and severe neurodevelopmental delay that has_material_basis_in homozygous mutation in the DNM1 gene on chromosome 9q34."
    },
    "synonyms": [
        {
            "id": "DOID:0070376",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070376",
            "name": "DEE31B",
            "description": ""
        },
        {
            "id": "MONDO:0957248",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0957248",
            "name": "developmental and epileptic encephalopathy, 31B",
            "description": "Any developmental and epileptic encephalopathy in which the cause of the disease is a homozygous mutation in the DNM1 gene."
        },
        {
            "id": "MONDO:0957248",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0957248",
            "name": "DNM1-encephalopathy and neurodevelopmental disorder",
            "description": ""
        },
        {
            "id": "MONDO:0957248",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0957248",
            "name": "DEE31B",
            "description": ""
        },
        {
            "id": "MONDO:0957248",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0957248",
            "name": "developmental and epileptic encephalopathy 31B, autosomal recessive",
            "description": ""
        },
        {
            "id": "MIM:620352",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620352",
            "name": "Developmental and epileptic encephalopathy 31B",
            "description": "Developmental and epileptic encephalopathy 31B"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070376"
    ],
    "unlinked_id_list": []
}
