{
    "disease_id": "DOID:0080457", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013254", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013254", 
            "name": "microcephaly - seizures - developmental delay"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013254", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013254", 
            "name": "epileptic encephalopathy, early infantile, 10"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013254", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013254", 
            "name": "EIEE10"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013254", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013254", 
            "name": "microcephaly, seizures, and developmental delay; MCSZ"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013254", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013254", 
            "name": "early infantile epileptic encephalopathy-10"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013254", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013254", 
            "name": "MCSZ"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0080457", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0080457", 
            "name": "early infantile epileptic encephalopathy 10"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0080457", 
        "description": "An early infantile epileptic encephalopathy characterized by microcephaly, infantile onset of seizures and developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the PNKP gene on chromosome 19q13.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0080457", 
        "name": "microcephaly, seizures, and developmental delay"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/613402", 
            "id": "613402", 
            "database": "MIM"
        }
    ]
}