{
    "disease_id": "DOID:0081420",
    "recommended_name": {
        "id": "DOID:0081420",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081420",
        "name": "familial focal epilepsy with variable foci",
        "description": "A focal epilepsy that is characterized by focal seizures, with seizure onset in a discrete area of the brain including the temporal, frontal, parietal, and occipital lobes, with focal seizures arising from different cortical regions in different family members."
    },
    "synonyms": [
        {
            "id": "DOID:0081420",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081420",
            "name": "DEPDC5-related epilepsy",
            "description": ""
        },
        {
            "id": "MONDO:0024556",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024556",
            "name": "epilepsy, familial focal, with variable foci 1",
            "description": "Any epilepsy, familial focal, with variable foci in which the cause of the disease is a mutation in the DEPDC5 gene."
        },
        {
            "id": "MONDO:0024556",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024556",
            "name": "DEPDC5 epilepsy, familial focal, with variable foci",
            "description": ""
        },
        {
            "id": "MONDO:0024556",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024556",
            "name": "epilepsy, familial focal, with variable foci 1",
            "description": ""
        },
        {
            "id": "MONDO:0024556",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024556",
            "name": "epilepsy, familial focal, with variable foci caused by mutation in DEPDC5",
            "description": ""
        },
        {
            "id": "MONDO:0024556",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024556",
            "name": "FFEVF1",
            "description": ""
        },
        {
            "id": "MIM:604364",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/604364",
            "name": "Epilepsy, familial focal, with variable foci 1",
            "description": "Epilepsy, familial focal, with variable foci 1"
        }
    ],
    "children": [
        {
            "id": "DOID:0081421",
            "label": "familial focal epilepsy with variable foci 1",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0081422",
            "label": "familial focal epilepsy with variable foci 2",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0081423",
            "label": "familial focal epilepsy with variable foci 3",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0081424",
            "label": "familial focal epilepsy with variable foci 4",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0081424",
        "DOID:0081421",
        "DOID:0081422",
        "DOID:0081423",
        "DOID:0081420"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081420",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081420",
            "categories": []
        },
        {
            "id": "MONDO:0024556",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024556",
            "categories": []
        },
        {
            "id": "MIM:604364",
            "database": "MIM",
            "url": "https://www.omim.org/entry/604364",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "O75140-10",
            "uniprot_ac": "O75140",
            "uniprot_id": "DEPD5_HUMAN",
            "refseq_ac": "NP_001007189",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "GATOR1 complex protein DEPDC5",
                    "type": "recommended"
                },
                {
                    "name": "DEP domain-containing protein 5",
                    "type": "synonym"
                },
                {
                    "name": "GATOR complex protein DEPDC5",
                    "type": "synonym"
                },
                {
                    "name": "GATOR1 complex protein DEPDC5 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "GATOR1 complex protein DEPDC5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DEPDC5",
                    "type": "recommended"
                },
                {
                    "name": "DEE111",
                    "type": "synonym"
                },
                {
                    "name": "DEP.5",
                    "type": "synonym"
                },
                {
                    "name": "DEPDC5",
                    "type": "synonym"
                },
                {
                    "name": "FFEVF1",
                    "type": "synonym"
                },
                {
                    "name": "FFEVF",
                    "type": "synonym"
                },
                {
                    "name": "FPEVF",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0645",
                    "type": "synonym"
                }
            ],
            "record_id": "O75140-10",
            "evidence": [
                {
                    "id": "604364",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/604364"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081420"
}