{
    "disease_id": "DOID:0080470", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010472", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010472", 
            "name": "ALG13-CDG"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010472", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010472", 
            "name": "EIEE36"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010472", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010472", 
            "name": "CDG syndrome type Is"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010472", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010472", 
            "name": "congenital disorder of glycosylation type Is"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010472", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010472", 
            "name": "CDG Is"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010472", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010472", 
            "name": "epileptic encephalopathy, early infantile, 36"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010472", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010472", 
            "name": "CDG1S"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010472", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010472", 
            "name": "congenital disorder of glycosylation, type Is; CDG1S"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010472", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010472", 
            "name": "epileptic encephalopathy, early infantile, 36; EIEE36"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010472", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010472", 
            "name": "congenital disorder of glycosylation type 1s"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010472", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010472", 
            "name": "CDG-Is"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010472", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010472", 
            "name": "congenital disorder of glycosylation, type Is"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0080470", 
        "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.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0080470", 
        "name": "early infantile epileptic encephalopathy 36"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0080470#disease-associations", 
            "id": "0080470", 
            "database": "Alliance of Genome Resources"
        }
    ]
}