{
    "disease_id": "DOID:0080470",
    "recommended_name": {
        "id": "DOID:0080470",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080470",
        "name": "early infantile epileptic encephalopathy 36",
        "description": "An early infantile epileptic encephalopathy characterized by X-linked dominant inheritance of infantile onset of seizures, delayed psychomotor development and in some patients dysmorphic features that has_material_basis_in heterozygous mutation in the ALG13 gene on chromosome Xq23."
    },
    "synonyms": [
        {
            "id": "MONDO:0010472",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010472",
            "name": "ALG13-CDG",
            "description": ""
        },
        {
            "id": "MONDO:0010472",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010472",
            "name": "EIEE36",
            "description": ""
        },
        {
            "id": "MONDO:0010472",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010472",
            "name": "CDG syndrome type Is",
            "description": ""
        },
        {
            "id": "MONDO:0010472",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010472",
            "name": "congenital disorder of glycosylation type Is",
            "description": ""
        },
        {
            "id": "MONDO:0010472",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010472",
            "name": "CDG Is",
            "description": ""
        },
        {
            "id": "MONDO:0010472",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010472",
            "name": "epileptic encephalopathy, early infantile, 36",
            "description": ""
        },
        {
            "id": "MONDO:0010472",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010472",
            "name": "CDG1S",
            "description": ""
        },
        {
            "id": "MONDO:0010472",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010472",
            "name": "congenital disorder of glycosylation, type Is; CDG1S",
            "description": ""
        },
        {
            "id": "MONDO:0010472",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010472",
            "name": "epileptic encephalopathy, early infantile, 36; EIEE36",
            "description": ""
        },
        {
            "id": "MONDO:0010472",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010472",
            "name": "congenital disorder of glycosylation type 1s",
            "description": ""
        },
        {
            "id": "MONDO:0010472",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010472",
            "name": "CDG-Is",
            "description": ""
        },
        {
            "id": "MONDO:0010472",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010472",
            "name": "congenital disorder of glycosylation, type Is",
            "description": ""
        },
        {
            "id": "MIM:300884",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300884",
            "name": "Developmental and epileptic encephalopathy 36",
            "description": "Developmental and epileptic encephalopathy 36"
        }
    ]
}