{
    "disease_id": "DOID:0080439",
    "recommended_name": {
        "id": "DOID:0080439",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080439",
        "name": "developmental and epileptic encephalopathy 14",
        "description": "A developmental and epileptic encephalopathy characterized by refractory focal seizures developing by 6 months of age and arrest of psychomotor development that has_material_basis_in heterozygous mutation in the KCNT1 gene on chromosome 9q34."
    },
    "synonyms": [
        {
            "id": "DOID:0080439",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080439",
            "name": "DEE14",
            "description": ""
        },
        {
            "id": "DOID:0080439",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080439",
            "name": "early infantile epileptic encephalopathy 14",
            "description": ""
        },
        {
            "id": "MONDO:0013989",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013989",
            "name": "developmental and epileptic encephalopathy, 14",
            "description": "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the KCNT1 gene."
        },
        {
            "id": "MONDO:0013989",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013989",
            "name": "KCNT1-related epilepsy",
            "description": ""
        },
        {
            "id": "MONDO:0013989",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013989",
            "name": "DEE14",
            "description": ""
        },
        {
            "id": "MONDO:0013989",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013989",
            "name": "EIEE14",
            "description": ""
        },
        {
            "id": "MONDO:0013989",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013989",
            "name": "KCNT1 early infantile epileptic encephalopathy",
            "description": ""
        },
        {
            "id": "MONDO:0013989",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013989",
            "name": "developmental and epileptic encephalopathy 14",
            "description": ""
        },
        {
            "id": "MONDO:0013989",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013989",
            "name": "early infantile epileptic encephalopathy caused by mutation in KCNT1",
            "description": ""
        },
        {
            "id": "MONDO:0013989",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013989",
            "name": "epileptic encephalopathy, early infantile, 14",
            "description": ""
        },
        {
            "id": "MONDO:0013989",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013989",
            "name": "epileptic encephalopathy, early infantile, type 14",
            "description": ""
        },
        {
            "id": "MIM:614959",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614959",
            "name": "Developmental and epileptic encephalopathy 14",
            "description": "Developmental and epileptic encephalopathy 14"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080439"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080439",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080439",
            "categories": []
        },
        {
            "id": "MONDO:0013989",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013989",
            "categories": []
        },
        {
            "id": "MIM:614959",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614959",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AC58IC80-1",
            "uniprot_ac": "A0AC58IC80",
            "uniprot_id": "A0AC58IC80_DANRE",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Potassium channel subfamily T member 1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "kcnt1a",
                    "type": "recommended"
                }
            ],
            "record_id": "A0AC58IC80-1",
            "evidence": [
                {
                    "id": "0080439",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080439"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6ZPR4-1",
            "uniprot_ac": "Q6ZPR4",
            "uniprot_id": "KCNT1_MOUSE",
            "refseq_ac": "NP_001138875",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Potassium channel subfamily T member 1",
                    "type": "recommended"
                },
                {
                    "name": "potassium channel subfamily T member 1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel subunit homolog",
                    "type": "synonym"
                },
                {
                    "name": "sodium-activated potassium channel",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kcnt1",
                    "type": "recommended"
                },
                {
                    "name": "C030030G16Rik",
                    "type": "synonym"
                },
                {
                    "name": "Kcnt1",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa1422",
                    "type": "synonym"
                },
                {
                    "name": "Slack",
                    "type": "synonym"
                },
                {
                    "name": "Slo2.2",
                    "type": "synonym"
                },
                {
                    "name": "slo2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6ZPR4-1",
            "evidence": [
                {
                    "id": "0080439",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080439"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5JUK3-1",
            "uniprot_ac": "Q5JUK3",
            "uniprot_id": "KCNT1_HUMAN",
            "refseq_ac": "NP_001258932",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Potassium channel subfamily T member 1",
                    "type": "recommended"
                },
                {
                    "name": "KCa4.1",
                    "type": "synonym"
                },
                {
                    "name": "KNa1.1",
                    "type": "synonym"
                },
                {
                    "name": "Sequence like a calcium-activated K+ channel",
                    "type": "synonym"
                },
                {
                    "name": "Sodium and chloride-activated ATP-sensitive potassium channel Slo2.2",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel subfamily T member 1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel, sodium activated subfamily T, member 1",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel, subfamily T, member 1",
                    "type": "synonym"
                },
                {
                    "name": "sodium and chloride-activated ATP-sensitive potassium channel Slo2.2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KCNT1",
                    "type": "recommended"
                },
                {
                    "name": "DEE14",
                    "type": "synonym"
                },
                {
                    "name": "EIEE14",
                    "type": "synonym"
                },
                {
                    "name": "ENFL5",
                    "type": "synonym"
                },
                {
                    "name": "KCNT1",
                    "type": "synonym"
                },
                {
                    "name": "KCa4.1",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1422",
                    "type": "synonym"
                },
                {
                    "name": "KNa1.1",
                    "type": "synonym"
                },
                {
                    "name": "SLACK",
                    "type": "synonym"
                },
                {
                    "name": "Slo2.2",
                    "type": "synonym"
                },
                {
                    "name": "bA100C15.2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5JUK3-1",
            "evidence": [
                {
                    "id": "614959",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614959"
                },
                {
                    "id": "0080439",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080439"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Z258-1",
            "uniprot_ac": "Q9Z258",
            "uniprot_id": "KCNT1_RAT",
            "refseq_ac": "XP_006233761",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Potassium channel subfamily T member 1",
                    "type": "recommended"
                },
                {
                    "name": "Sequence like a calcium-activated potassium channel subunit",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel subfamily T member 1 isoform X3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kcnt1",
                    "type": "recommended"
                },
                {
                    "name": "Kcnt1",
                    "type": "synonym"
                },
                {
                    "name": "Slack",
                    "type": "synonym"
                },
                {
                    "name": "rSlo2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Z258-1",
            "evidence": [
                {
                    "id": "0080439",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080439"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A8DY93-1",
            "uniprot_ac": "A8DY93",
            "uniprot_id": "A8DY93_DROME",
            "refseq_ac": "NP_001097259",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG42732-PD",
                    "type": "synonym"
                },
                {
                    "name": "SLO2-PD",
                    "type": "synonym"
                },
                {
                    "name": "Slowpoke 2, isoform D",
                    "type": "synonym"
                },
                {
                    "name": "slowpoke 2, isoform D",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SLO2",
                    "type": "recommended"
                },
                {
                    "name": "CG12897",
                    "type": "synonym"
                },
                {
                    "name": "CG12899",
                    "type": "synonym"
                },
                {
                    "name": "CG12901",
                    "type": "synonym"
                },
                {
                    "name": "CG12904",
                    "type": "synonym"
                },
                {
                    "name": "CG34363",
                    "type": "synonym"
                },
                {
                    "name": "CG42732",
                    "type": "synonym"
                },
                {
                    "name": "Dm_2R:24301",
                    "type": "synonym"
                },
                {
                    "name": "Dm_2R:24438",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG42732",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG42732",
                    "type": "synonym"
                },
                {
                    "name": "SLO2",
                    "type": "synonym"
                },
                {
                    "name": "Slack",
                    "type": "synonym"
                },
                {
                    "name": "Slo2",
                    "type": "synonym"
                },
                {
                    "name": "dSLO2",
                    "type": "synonym"
                },
                {
                    "name": "dSlo2",
                    "type": "synonym"
                }
            ],
            "record_id": "A8DY93-1",
            "evidence": [
                {
                    "id": "0080439",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080439"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080439"
}