{
    "disease_id": "DOID:0112122",
    "recommended_name": {
        "id": "DOID:0112122",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112122",
        "name": "X-linked epilepsy with variable learning disabilities and behavior disorders",
        "description": "An epilepsy characterized by epilepsy with variable learning disabilities and behavioral disorders in some patients that has_material_basis_in heterozygous or hemizygous mutation in the SYN1 gene on chromosome Xp11.3-p11.2."
    },
    "synonyms": [
        {
            "id": "DOID:0112122",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112122",
            "name": "X-linked epilepsy-learning disabilities-behavior disorders syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010339",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010339",
            "name": "epilepsy, X-linked 1, with variable learning disabilities and behavior disorders",
            "description": "An epilepsy, X-linked, with or without impaired intellectual development and dysmorphic features characterized by epilepsy, learning difficulties, macrocephaly, and aggressive behavior. It has been described in males from a four-generation kindred. It is transmitted as an X-linked recessive trait and is likely to be caused by mutations in the gene encoding synapsin I (Xp11.3-q12)."
        },
        {
            "id": "MONDO:0010339",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010339",
            "name": "X-linked epilepsy-learning disabilities-behavior disorders syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010339",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010339",
            "name": "epilepsy, X-linked, with variable learning disabilities and behavior disorders, X-linked recessive, X-linked dominant",
            "description": ""
        },
        {
            "id": "MONDO:0010339",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010339",
            "name": "epilepsy, X-linked, with variable learning disabilities and behaviour disorders, X-linked recessive, X-linked dominant",
            "description": ""
        },
        {
            "id": "MONDO:0010339",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010339",
            "name": "epilepsy, X-linked, with variable learning disabilities and behaviour disorders",
            "description": ""
        },
        {
            "id": "MIM:300491",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300491",
            "name": "Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders",
            "description": "Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112122"
    ],
    "unlinked_id_list": []
}