{
    "disease_id": "DOID:0111694",
    "recommended_name": {
        "id": "DOID:0111694",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111694",
        "name": "familial adult myoclonic epilepsy 7",
        "description": "A familial adult myoclonic epilepsy that has_material_basis_in a heterozygous 5-bp repeat expansion in the RAPGEF2 gene on chromosome 4q32.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111694",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111694",
            "name": "BAFME7",
            "description": ""
        },
        {
            "id": "DOID:0111694",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111694",
            "name": "FAME7",
            "description": ""
        },
        {
            "id": "DOID:0111694",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111694",
            "name": "FCMTE7",
            "description": ""
        },
        {
            "id": "DOID:0111694",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111694",
            "name": "benign adult familial myoclonic epilepsy 7",
            "description": ""
        },
        {
            "id": "DOID:0111694",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111694",
            "name": "familial cortical myoclonic tremor and epilepsy 7",
            "description": ""
        },
        {
            "id": "MONDO:0054847",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054847",
            "name": "epilepsy, familial adult myoclonic, 7",
            "description": ""
        },
        {
            "id": "MONDO:0054847",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054847",
            "name": "FAME7",
            "description": ""
        },
        {
            "id": "MIM:618075",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618075",
            "name": "Epilepsy, familial adult myoclonic, 7",
            "description": "Epilepsy, familial adult myoclonic, 7"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111694"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111694",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111694",
            "categories": []
        },
        {
            "id": "MONDO:0054847",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054847",
            "categories": []
        },
        {
            "id": "MIM:618075",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618075",
            "categories": []
        }
    ],
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        {
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            "uniprot_ac": "A0A8M6Z2S8",
            "uniprot_id": "A0A8M6Z2S8_DANRE",
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                    "glygen_name": "Zebrafish",
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                }
            ],
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                    "type": "recommended"
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                    "type": "synonym"
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                {
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                },
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                    "name": "PDZ domain-containing guanine nucleotide exchange factor 1",
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                    "type": "synonym"
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                },
                {
                    "name": "rap guanine nucleotide exchange factor 2 isoform X1",
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                }
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                    "name": "rapgef2b",
                    "type": "recommended"
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                    "name": "rapgef2b",
                    "type": "synonym"
                }
            ],
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                }
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                    "type": "synonym"
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                    "type": "recommended"
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                    "reference_species": "Mus musculus [10090]"
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            ],
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            ],
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                    "name": "Rapgef2",
                    "type": "recommended"
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                {
                    "name": "5830453M24Rik",
                    "type": "synonym"
                },
                {
                    "name": "CNRasGEF",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa0313",
                    "type": "synonym"
                },
                {
                    "name": "Pdzgef1",
                    "type": "synonym"
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                {
                    "name": "RA-GEF-1",
                    "type": "synonym"
                },
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                },
                {
                    "name": "mKIAA0313",
                    "type": "synonym"
                },
                {
                    "name": "nRapGEP",
                    "type": "synonym"
                }
            ],
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                    "id": "0111694",
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            ]
        },
        {
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            "uniprot_ac": "Q9Y4G8",
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                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                    "name": "Saccharomyces cerevisiae S288C",
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                    "name": "Rattus norvegicus",
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                    "name": "Drosophila melanogaster",
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                    "name": "EC2-8",
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                    "name": "Gef26",
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                    "name": "PDF-GEF Dizzy",
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                    "name": "PDZ-GEF",
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                    "name": "dPDZ-GEF",
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                    "name": "l(2)k13720",
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    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111694"
}