{
    "disease_id": "DOID:0080445",
    "recommended_name": {
        "id": "DOID:0080445",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080445",
        "name": "developmental and epileptic encephalopathy 13",
        "description": "A developmental and epileptic encephalopathy characterized by onset of intractable seizures in the first year of life with impaired development or developmental regression after seizure onset that has_material_basis_in heterozygous mutation in the SCN8A gene on chromosome 12q13."
    },
    "synonyms": [
        {
            "id": "DOID:0080445",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080445",
            "name": "DEE13",
            "description": ""
        },
        {
            "id": "DOID:0080445",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080445",
            "name": "early infantile epileptic encephalopathy 13",
            "description": ""
        },
        {
            "id": "MONDO:0013801",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013801",
            "name": "developmental and epileptic encephalopathy, 13",
            "description": "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SCN8A gene."
        },
        {
            "id": "MONDO:0013801",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013801",
            "name": "DEE13",
            "description": ""
        },
        {
            "id": "MONDO:0013801",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013801",
            "name": "EIEE13",
            "description": ""
        },
        {
            "id": "MONDO:0013801",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013801",
            "name": "SCN8A early infantile epileptic encephalopathy",
            "description": ""
        },
        {
            "id": "MONDO:0013801",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013801",
            "name": "developmental and epileptic encephalopathy 13",
            "description": ""
        },
        {
            "id": "MONDO:0013801",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013801",
            "name": "early infantile epileptic encephalopathy caused by mutation in SCN8A",
            "description": ""
        },
        {
            "id": "MONDO:0013801",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013801",
            "name": "early infantile epileptic encephalopathy-13",
            "description": ""
        },
        {
            "id": "MONDO:0013801",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013801",
            "name": "epileptic encephalopathy, early infantile, 13",
            "description": ""
        },
        {
            "id": "MONDO:0013801",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013801",
            "name": "epileptic encephalopathy, early infantile, type 13",
            "description": ""
        },
        {
            "id": "MONDO:0013801",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013801",
            "name": "SCN8A encephalopathy",
            "description": ""
        },
        {
            "id": "MONDO:0013801",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013801",
            "name": "SCN8A epilepsy",
            "description": ""
        },
        {
            "id": "MIM:614558",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614558",
            "name": "Developmental and epileptic encephalopathy 13",
            "description": "Developmental and epileptic encephalopathy 13"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080445"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080445",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080445",
            "categories": []
        },
        {
            "id": "MONDO:0013801",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013801",
            "categories": []
        },
        {
            "id": "MIM:614558",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614558",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M2BDE6-1",
            "uniprot_ac": "A0A8M2BDE6",
            "uniprot_id": "A0A8M2BDE6_DANRE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium channel protein",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "scn8ab",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A8M2BDE6-1",
            "evidence": [
                {
                    "id": "0080445",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080445"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M9PT64-1",
            "uniprot_ac": "A0A8M9PT64",
            "uniprot_id": "A0A8M9PT64_DANRE",
            "refseq_ac": "XP_068072895",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium channel protein",
                    "type": "recommended"
                },
                {
                    "name": "sodium channel, voltage gated, type VIII, alpha subunit a isoform X2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "scn8aa",
                    "type": "recommended"
                },
                {
                    "name": "Nav1.6",
                    "type": "synonym"
                },
                {
                    "name": "scn8aa",
                    "type": "synonym"
                },
                {
                    "name": "scn8a",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9PT64-1",
            "evidence": [
                {
                    "id": "0080445",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080445"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9WTU3-1",
            "uniprot_ac": "Q9WTU3",
            "uniprot_id": "SCN8A_MOUSE",
            "refseq_ac": "NP_001070967",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium channel protein type 8 subunit alpha",
                    "type": "recommended"
                },
                {
                    "name": "Sodium channel protein type VIII subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "Voltage-gated sodium channel subunit alpha Nav1.6",
                    "type": "synonym"
                },
                {
                    "name": "ataxia 3",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel protein type 8 subunit alpha isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel protein type 8 subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel protein type VIII subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated sodium channel alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated sodium channel subunit alpha Nav1.6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Scn8a",
                    "type": "recommended"
                },
                {
                    "name": "C630029C19Rik",
                    "type": "synonym"
                },
                {
                    "name": "NaCh6",
                    "type": "synonym"
                },
                {
                    "name": "Nav1.6",
                    "type": "synonym"
                },
                {
                    "name": "Nbna1",
                    "type": "synonym"
                },
                {
                    "name": "Scn8a",
                    "type": "synonym"
                },
                {
                    "name": "dmu",
                    "type": "synonym"
                },
                {
                    "name": "med",
                    "type": "synonym"
                },
                {
                    "name": "mnd-2",
                    "type": "synonym"
                },
                {
                    "name": "mnd2",
                    "type": "synonym"
                },
                {
                    "name": "nmf2",
                    "type": "synonym"
                },
                {
                    "name": "nmf335",
                    "type": "synonym"
                },
                {
                    "name": "nmf58",
                    "type": "synonym"
                },
                {
                    "name": "nur14",
                    "type": "synonym"
                },
                {
                    "name": "seal",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9WTU3-1",
            "evidence": [
                {
                    "id": "0080445",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080445"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UQD0-1",
            "uniprot_ac": "Q9UQD0",
            "uniprot_id": "SCN8A_HUMAN",
            "refseq_ac": "NP_001171455",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium channel protein type 8 subunit alpha",
                    "type": "recommended"
                },
                {
                    "name": "Sodium channel protein type VIII subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "Voltage-gated sodium channel subunit alpha Nav1.6",
                    "type": "synonym"
                },
                {
                    "name": "hNa6/Scn8a voltage-gated sodium channel",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel protein type 8 subunit alpha isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel protein type 8 subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel, voltage gated, type VIII, alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated sodium channel subunit alpha Nav1.6",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated sodium channel type VIII alpha protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SCN8A",
                    "type": "recommended"
                },
                {
                    "name": "BFIS5",
                    "type": "synonym"
                },
                {
                    "name": "CERIII",
                    "type": "synonym"
                },
                {
                    "name": "CIAT",
                    "type": "synonym"
                },
                {
                    "name": "DEE13",
                    "type": "synonym"
                },
                {
                    "name": "EIEE13",
                    "type": "synonym"
                },
                {
                    "name": "MED",
                    "type": "synonym"
                },
                {
                    "name": "MYOCL2",
                    "type": "synonym"
                },
                {
                    "name": "NaCh6",
                    "type": "synonym"
                },
                {
                    "name": "Nav1.6",
                    "type": "synonym"
                },
                {
                    "name": "PN4",
                    "type": "synonym"
                },
                {
                    "name": "SCN8A",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UQD0-1",
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                {
                    "id": "614558",
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                    "url": "https://www.omim.org/entry/614558"
                },
                {
                    "id": "0080445",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080445"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P50077-1",
            "uniprot_ac": "P50077",
            "uniprot_id": "CCH1_YEAST",
            "refseq_ac": "NP_011733",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Calcium-channel protein CCH1",
                    "type": "recommended"
                },
                {
                    "name": "calcium channel protein CCH1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CCH1",
                    "type": "recommended"
                },
                {
                    "name": "CCH1",
                    "type": "synonym"
                },
                {
                    "name": "G8501",
                    "type": "synonym"
                }
            ],
            "record_id": "P50077-1",
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                {
                    "id": "0080445",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080445"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O88420-1",
            "uniprot_ac": "O88420",
            "uniprot_id": "SCN8A_RAT",
            "refseq_ac": "NP_062139",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium channel protein type 8 subunit alpha",
                    "type": "recommended"
                },
                {
                    "name": "Na+ channel",
                    "type": "synonym"
                },
                {
                    "name": "NaCh6",
                    "type": "synonym"
                },
                {
                    "name": "PN4",
                    "type": "synonym"
                },
                {
                    "name": "Peripheral nerve protein type 4",
                    "type": "synonym"
                },
                {
                    "name": "Sodium channel 6",
                    "type": "synonym"
                },
                {
                    "name": "Sodium channel protein type VIII subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "Voltage-gated sodium channel subunit alpha Nav1.6",
                    "type": "synonym"
                },
                {
                    "name": "naCh6",
                    "type": "synonym"
                },
                {
                    "name": "peripheral nerve protein type 4",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel 6",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel protein type 8 subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel protein type VIII subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel, voltage gated, type VIII, alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel, voltage-gated, type 8, alpha polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel, voltage-gated, type 8, alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel, voltage-gated, type VIII, alpha polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated sodium channel subunit alpha Nav1.6",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Scn8a",
                    "type": "recommended"
                },
                {
                    "name": "Scn8a",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0080445",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080445"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P35500-1",
            "uniprot_ac": "P35500",
            "uniprot_id": "SCNA_DROME",
            "refseq_ac": "NP_001036280",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium channel protein para",
                    "type": "recommended"
                },
                {
                    "name": "CG9907-PB",
                    "type": "synonym"
                },
                {
                    "name": "DmNav1",
                    "type": "synonym"
                },
                {
                    "name": "Out cold",
                    "type": "synonym"
                },
                {
                    "name": "Out-cold",
                    "type": "synonym"
                },
                {
                    "name": "Protein paralytic",
                    "type": "synonym"
                },
                {
                    "name": "Sodium channel 1",
                    "type": "synonym"
                },
                {
                    "name": "bang senseless",
                    "type": "synonym"
                },
                {
                    "name": "bang sensitive",
                    "type": "synonym"
                },
                {
                    "name": "bang-senseless",
                    "type": "synonym"
                },
                {
                    "name": "bangsenseless",
                    "type": "synonym"
                },
                {
                    "name": "para-PB",
                    "type": "synonym"
                },
                {
                    "name": "paralytic, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "paralytic",
                    "type": "synonym"
                },
                {
                    "name": "paralyzed",
                    "type": "synonym"
                },
                {
                    "name": "shudderer",
                    "type": "synonym"
                },
                {
                    "name": "smell-blind",
                    "type": "synonym"
                },
                {
                    "name": "smellblind",
                    "type": "synonym"
                },
                {
                    "name": "voltage gated sodium ion channel",
                    "type": "synonym"
                },
                {
                    "name": "voltage-sensitive sodium channel",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "para",
                    "type": "recommended"
                },
                {
                    "name": "CG9907",
                    "type": "synonym"
                },
                {
                    "name": "DmNa[[V]]",
                    "type": "synonym"
                },
                {
                    "name": "DmNa[[v]]1",
                    "type": "synonym"
                },
                {
                    "name": "DmNa[[v]]",
                    "type": "synonym"
                },
                {
                    "name": "DmNav1",
                    "type": "synonym"
                },
                {
                    "name": "DmNav",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9907",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG9907",
                    "type": "synonym"
                },
                {
                    "name": "Nav1",
                    "type": "synonym"
                },
                {
                    "name": "Ocd",
                    "type": "synonym"
                },
                {
                    "name": "Para",
                    "type": "synonym"
                },
                {
                    "name": "Scn1alpha",
                    "type": "synonym"
                },
                {
                    "name": "Shudderer",
                    "type": "synonym"
                },
                {
                    "name": "Shu",
                    "type": "synonym"
                },
                {
                    "name": "VSSC",
                    "type": "synonym"
                },
                {
                    "name": "bas",
                    "type": "synonym"
                },
                {
                    "name": "bss",
                    "type": "synonym"
                },
                {
                    "name": "l(1)14Da",
                    "type": "synonym"
                },
                {
                    "name": "l(1)ESHS48",
                    "type": "synonym"
                },
                {
                    "name": "lincRNA.S9469",
                    "type": "synonym"
                },
                {
                    "name": "olfD",
                    "type": "synonym"
                },
                {
                    "name": "para13-5",
                    "type": "synonym"
                },
                {
                    "name": "para",
                    "type": "synonym"
                },
                {
                    "name": "par",
                    "type": "synonym"
                },
                {
                    "name": "sbl-1",
                    "type": "synonym"
                },
                {
                    "name": "sbl",
                    "type": "synonym"
                }
            ],
            "record_id": "P35500-1",
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                {
                    "id": "0080445",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080445"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P10109-1",
            "uniprot_ac": "P10109",
            "uniprot_id": "ADX_HUMAN",
            "refseq_ac": "NP_004100",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Adrenodoxin, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "Adrenal ferredoxin",
                    "type": "synonym"
                },
                {
                    "name": "Ferredoxin-1",
                    "type": "synonym"
                },
                {
                    "name": "Hepatoredoxin",
                    "type": "synonym"
                },
                {
                    "name": "adrenal ferredoxin",
                    "type": "synonym"
                },
                {
                    "name": "adrenodoxin, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "adrenodoxin, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "hepatoredoxin",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial adrenodoxin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FDX1",
                    "type": "recommended"
                },
                {
                    "name": "ADX",
                    "type": "synonym"
                },
                {
                    "name": "FDX1",
                    "type": "synonym"
                },
                {
                    "name": "FDX",
                    "type": "synonym"
                },
                {
                    "name": "LOH11CR1D",
                    "type": "synonym"
                }
            ],
            "record_id": "P10109-1",
            "evidence": [
                {
                    "id": "0080445",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080445"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080445"
}