{
    "disease_id": "DOID:0111324",
    "recommended_name": {
        "id": "DOID:0111324",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111324",
        "name": "juvenile absence epilepsy 1",
        "description": "A juvenile absence epilepsy that has_material_basis_in heterozygous mutation in EFHC1 on 6p12.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111324",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111324",
            "name": "EJA1",
            "description": ""
        },
        {
            "id": "DOID:0111324",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111324",
            "name": "JAE1",
            "description": ""
        },
        {
            "id": "MONDO:0011876",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011876",
            "name": "juvenile absence epilepsy",
            "description": "Juvenile absence epilepsy (JAE) is a genetic epilepsy with onset occurring around puberty. JAE is characterized by sporadic occurrence of absence seizures, frequently associated with a long-life prevalence of generalized tonic-clonic seizures (GTCS) and sporadic myoclonic jerks."
        },
        {
            "id": "MONDO:0011876",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011876",
            "name": "JAE",
            "description": ""
        },
        {
            "id": "MONDO:0011876",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011876",
            "name": "epilepsy, juvenile absence, susceptibility to, 1",
            "description": ""
        },
        {
            "id": "MONDO:0011876",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011876",
            "name": "epilepsy, juvenile absence, susceptibility to, 1; EJA1",
            "description": ""
        },
        {
            "id": "MONDO:0011876",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011876",
            "name": "susceptibility to juvenile absence epilepsy 1",
            "description": ""
        },
        {
            "id": "MONDO:0011876",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011876",
            "name": "epilepsy, juvenile absence, susceptibility to, type 1",
            "description": ""
        },
        {
            "id": "MONDO:0011876",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011876",
            "name": "Jae1",
            "description": ""
        },
        {
            "id": "MONDO:0011876",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011876",
            "name": "EJA1",
            "description": ""
        },
        {
            "id": "MONDO:0011876",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011876",
            "name": "epilepsy juvenile absence",
            "description": ""
        },
        {
            "id": "MIM:607631",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/607631",
            "name": "Juvenile absence epilepsy 1",
            "description": "Juvenile absence epilepsy 1"
        }
    ]
}