{
    "disease_id": "DOID:0080415", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014371", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014371", 
            "name": "early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014371", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014371", 
            "name": "epileptic encephalopathy, early infantile, 23"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014371", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014371", 
            "name": "epileptic encephalopathy, early infantile, 23; EIEE23"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014371", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014371", 
            "name": "epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014371", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014371", 
            "name": "epileptic encephalopathy, early infantile, type 23"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014371", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014371", 
            "name": "EIEE23"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0080415", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0080415", 
            "name": "Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0080415", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0080415", 
            "name": "Epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0080415", 
        "description": "An early infantile epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the DOCK7 gene on chromosome 1p31.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0080415", 
        "name": "early infantile epileptic encephalopathy 23"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0080415#disease-associations", 
            "id": "0080415", 
            "database": "Alliance of Genome Resources"
        }
    ]
}