{
    "disease_id": "DOID:0080284",
    "recommended_name": {
        "id": "DOID:0080284",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080284",
        "name": "developmental and epileptic encephalopathy 57",
        "description": "A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of refractory multifocal seizures, global developmental delay with hypotonia, variably impaired intellectual development, and poor or absent language that has_material_basis_in heterozygous mutation in the KCNT2 gene on chromosome 1q31."
    },
    "synonyms": [
        {
            "id": "DOID:0080284",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080284",
            "name": "early infantile epileptic encephalopathy 57",
            "description": ""
        },
        {
            "id": "DOID:0080284",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080284",
            "name": "DEE57",
            "description": ""
        },
        {
            "id": "MONDO:0033366",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033366",
            "name": "developmental and epileptic encephalopathy, 57",
            "description": ""
        },
        {
            "id": "MONDO:0033366",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033366",
            "name": "DEE57",
            "description": ""
        },
        {
            "id": "MONDO:0033366",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033366",
            "name": "EIEE57",
            "description": ""
        },
        {
            "id": "MONDO:0033366",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033366",
            "name": "developmental and epileptic encephalopathy 57",
            "description": ""
        },
        {
            "id": "MONDO:0033366",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033366",
            "name": "epileptic encephalopathy, early infantile, 57",
            "description": ""
        },
        {
            "id": "MONDO:0033366",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033366",
            "name": "infantile epileptic encephalopathy 57",
            "description": ""
        },
        {
            "id": "MIM:617771",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617771",
            "name": "Developmental and epileptic encephalopathy 57",
            "description": "Developmental and epileptic encephalopathy 57"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080284"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080284",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080284",
            "categories": []
        },
        {
            "id": "MONDO:0033366",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033366",
            "categories": []
        },
        {
            "id": "MIM:617771",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617771",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AB32TPK9-1",
            "uniprot_ac": "A0AB32TPK9",
            "uniprot_id": "A0AB32TPK9_DANRE",
            "refseq_ac": "XP_068075507",
            "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 2 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel subfamily T member 2 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "kcnt2b",
                    "type": "recommended"
                },
                {
                    "name": "kcnt2b",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB32TPK9-1",
            "evidence": [
                {
                    "id": "0080284",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080284"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0AB32T3C7-1",
            "uniprot_ac": "A0AB32T3C7",
            "uniprot_id": "A0AB32T3C7_DANRE",
            "refseq_ac": "XP_068069686",
            "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 2 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel subfamily T member 2 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "kcnt2a",
                    "type": "recommended"
                },
                {
                    "name": "kcnt2a",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB32T3C7-1",
            "evidence": [
                {
                    "id": "0080284",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080284"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3Z649-1",
            "uniprot_ac": "D3Z649",
            "uniprot_id": "KCNT2_MOUSE",
            "refseq_ac": "NP_001074496",
            "glycoprotein": "no",
            "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 2",
                    "type": "recommended"
                },
                {
                    "name": "Sequence like an intermediate conductance potassium channel subunit",
                    "type": "synonym"
                },
                {
                    "name": "Sodium and chloride-activated ATP-sensitive potassium channel Slo2.1",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel subfamily T member 2",
                    "type": "synonym"
                },
                {
                    "name": "sequence like an intermediate conductance potassium channel subunit",
                    "type": "synonym"
                },
                {
                    "name": "sodium and chloride-activated ATP-sensitive potassium channel Slo2.1",
                    "type": "synonym"
                },
                {
                    "name": "sodium- and chloride-activated ATP-sensitive potassium channel subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kcnt2",
                    "type": "recommended"
                },
                {
                    "name": "E330038N15Rik",
                    "type": "synonym"
                },
                {
                    "name": "Kcnt2",
                    "type": "synonym"
                },
                {
                    "name": "Slick",
                    "type": "synonym"
                },
                {
                    "name": "Slo2.2",
                    "type": "synonym"
                }
            ],
            "record_id": "D3Z649-1",
            "evidence": [
                {
                    "id": "0080284",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080284"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6UVM3-1",
            "uniprot_ac": "Q6UVM3",
            "uniprot_id": "KCNT2_HUMAN",
            "refseq_ac": "NP_001274748",
            "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 2",
                    "type": "recommended"
                },
                {
                    "name": "KNa1.2",
                    "type": "synonym"
                },
                {
                    "name": "Sequence like an intermediate conductance potassium channel subunit",
                    "type": "synonym"
                },
                {
                    "name": "Sodium and chloride-activated ATP-sensitive potassium channel Slo2.1",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel subfamily T member 2 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel, subfamily T, member 2",
                    "type": "synonym"
                },
                {
                    "name": "sequence like an intermediate conductance potassium channel subunit",
                    "type": "synonym"
                },
                {
                    "name": "sodium and chloride-activated ATP-sensitive potassium channel Slo2.1",
                    "type": "synonym"
                },
                {
                    "name": "sodium-and chloride-activated ATP-sensitive potassium channel (SLICK)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KCNT2",
                    "type": "recommended"
                },
                {
                    "name": "DEE57",
                    "type": "synonym"
                },
                {
                    "name": "EIEE57",
                    "type": "synonym"
                },
                {
                    "name": "KCNT2",
                    "type": "synonym"
                },
                {
                    "name": "KCa4.2",
                    "type": "synonym"
                },
                {
                    "name": "KNa1.2",
                    "type": "synonym"
                },
                {
                    "name": "SLICK",
                    "type": "synonym"
                },
                {
                    "name": "SLO2.1",
                    "type": "synonym"
                },
                {
                    "name": "Slo2.1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6UVM3-1",
            "evidence": [
                {
                    "id": "617771",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617771"
                },
                {
                    "id": "0080284",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080284"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6UVM4-1",
            "uniprot_ac": "Q6UVM4",
            "uniprot_id": "KCNT2_RAT",
            "refseq_ac": "NP_942057",
            "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 2",
                    "type": "recommended"
                },
                {
                    "name": "Sequence like an intermediate conductance potassium channel subunit",
                    "type": "synonym"
                },
                {
                    "name": "Sodium and chloride-activated ATP-sensitive potassium channel Slo2.1",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel subfamily T member 2",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel, sodium-activated subfamily T, member 2",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel, subfamily T, member 2",
                    "type": "synonym"
                },
                {
                    "name": "sequence like an intermediate conductance potassium channel subunit",
                    "type": "synonym"
                },
                {
                    "name": "sodium and chloride-activated ATP-sensitive potassium channel Slo2.1",
                    "type": "synonym"
                },
                {
                    "name": "sodium- and chloride-activated ATP-sensitive potassium channel",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kcnt2",
                    "type": "recommended"
                },
                {
                    "name": "Kcnt2",
                    "type": "synonym"
                },
                {
                    "name": "Slick",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6UVM4-1",
            "evidence": [
                {
                    "id": "0080284",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080284"
                }
            ]
        },
        {
            "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": "0080284",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080284"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080284"
}