{
    "disease_id": "DOID:0070379",
    "recommended_name": {
        "id": "DOID:0070379",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070379",
        "name": "developmental and epileptic encephalopathy 6B",
        "description": "A developmental and epileptic encephalopathy characterized by early-infantile seizure onset, profoundly impaired intellectual development, and a hyperkinetic movement disorder that has_material_basis_in heterozygous mutation in the SCN1A gene on chromosome 2q24."
    },
    "synonyms": [
        {
            "id": "DOID:0070379",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070379",
            "name": "DEE6B",
            "description": ""
        },
        {
            "id": "MONDO:0030268",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030268",
            "name": "developmental and epileptic encephalopathy 6B",
            "description": ""
        },
        {
            "id": "MONDO:0030268",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030268",
            "name": "DEE6B",
            "description": ""
        },
        {
            "id": "MONDO:0030268",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030268",
            "name": "developmental and epileptic encephalopathy 6B",
            "description": ""
        },
        {
            "id": "MONDO:0030268",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030268",
            "name": "developmental and epileptic encephalopathy 6B, non-Dravet",
            "description": ""
        },
        {
            "id": "MIM:619317",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619317",
            "name": "Developmental and epileptic encephalopathy 6B",
            "description": "Developmental and epileptic encephalopathy 6B"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070379"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070379",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070379",
            "categories": []
        },
        {
            "id": "MONDO:0030268",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030268",
            "categories": []
        },
        {
            "id": "MIM:619317",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619317",
            "categories": []
        }
    ],
    "proteins": [
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            "uniprot_ac": "A0ACD6B7I9",
            "uniprot_id": "A0ACD6B7I9_DANRE",
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                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                {
                    "name": "Sodium channel protein",
                    "type": "recommended"
                },
                {
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                }
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                {
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                    "type": "recommended"
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                    "name": "Nav1.1",
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                },
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                    "name": "scn1laa",
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                    "name": "unm_sa1674",
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                {
                    "name": "zgc:158596",
                    "type": "synonym"
                },
                {
                    "name": "zgc:55600",
                    "type": "synonym"
                },
                {
                    "name": "zscn8",
                    "type": "synonym"
                }
            ],
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                    "id": "0070379",
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                }
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                }
            ],
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                    "name": "Sodium channel protein",
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                }
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                    "id": "0070379",
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                }
            ]
        },
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                    "name": "Mus musculus",
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                }
            ],
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                    "name": "Sodium channel protein type 1 subunit alpha",
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                    "name": "B230332M13",
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        },
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            "uniprot_canonical_ac": "P35498-1",
            "uniprot_ac": "P35498",
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                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
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                }
            ],
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                    "name": "Sodium channel protein type 1 subunit alpha",
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                },
                {
                    "name": "Sodium channel protein brain I subunit alpha",
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                    "type": "synonym"
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                    "type": "synonym"
                },
                {
                    "name": "sodium channel protein type 1 subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel protein type I subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel protein, brain I alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel voltage gated type 1 alpha subunit",
                    "type": "synonym"
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                {
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                    "type": "synonym"
                },
                {
                    "name": "sodium channel, voltage-gated, type I, alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated sodium channel subunit alpha Nav1.1",
                    "type": "synonym"
                }
            ],
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                    "type": "recommended"
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                    "name": "DEE6",
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                    "name": "DRVT",
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                },
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                    "name": "EIEE6",
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                    "name": "FEB3A",
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                    "name": "FEB3",
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                },
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                    "name": "FHM3",
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                    "name": "GEFSP2",
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                    "name": "HBSCI",
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                    "id": "0070379",
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                    "name": "Saccharomyces cerevisiae S288C",
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                    "name": "Rattus norvegicus",
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                    "name": "Sodium channel protein type 1 subunit alpha",
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                {
                    "name": "Drosophila melanogaster",
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                    "glygen_name": "Fruit fly",
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                }
            ],
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                    "name": "Out cold",
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                    "name": "Protein paralytic",
                    "type": "synonym"
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                    "name": "Sodium channel 1",
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                    "name": "paralyzed",
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                    "name": "shudderer",
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                    "name": "smell-blind",
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                    "name": "smellblind",
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                },
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                    "name": "voltage gated sodium ion channel",
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                    "name": "Shu",
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                    "name": "VSSC",
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                    "name": "bas",
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                    "name": "bss",
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                    "name": "l(1)14Da",
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                    "name": "l(1)ESHS48",
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                {
                    "name": "lincRNA.S9469",
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                    "name": "olfD",
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                    "name": "para13-5",
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                    "name": "par",
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                }
            ]
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    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070379"
}