{
    "disease_id": "DOID:0080467",
    "recommended_name": {
        "id": "DOID:0080467",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080467",
        "name": "early infantile epileptic encephalopathy 2",
        "description": "An early infantile epileptic encephalopathy characterized by X-linked dominant inheritance of seizure onset in the first months of life, intellectual disability, and poor motor control that has_material_basis_in mutation in the CDKL5 gene on chromosome Xp22."
    },
    "synonyms": [
        {
            "id": "DOID:0080467",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0080467",
            "name": "X-linked infantile spasm syndrome 2",
            "description": ""
        },
        {
            "id": "MONDO:0010396",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010396",
            "name": "epileptic encephalopathy, early infantile, 2",
            "description": "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the CDKL5 gene."
        },
        {
            "id": "MONDO:0010396",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010396",
            "name": "epileptic encephalopathy, early infantile, 2",
            "description": ""
        },
        {
            "id": "MONDO:0010396",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010396",
            "name": "infantile spasm syndrome, X-linked 2",
            "description": ""
        },
        {
            "id": "MONDO:0010396",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010396",
            "name": "epileptic encephalopathy, early infantile, 2; EIEE2",
            "description": ""
        },
        {
            "id": "MONDO:0010396",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010396",
            "name": "EIEE2",
            "description": ""
        },
        {
            "id": "MONDO:0010396",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010396",
            "name": "epileptic encephalopathy, early infantile, type 2",
            "description": ""
        },
        {
            "id": "MONDO:0010396",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010396",
            "name": "early infantile epileptic encephalopathy caused by mutation in CDKL5",
            "description": ""
        },
        {
            "id": "MONDO:0010396",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010396",
            "name": "CDKL5 early infantile epileptic encephalopathy",
            "description": ""
        },
        {
            "id": "MIM:300672",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300672",
            "name": "Developmental and epileptic encephalopathy 2",
            "description": "Developmental and epileptic encephalopathy 2"
        }
    ]
}