{
    "disease_id": "DOID:0080461",
    "recommended_name": {
        "id": "DOID:0080461",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080461",
        "name": "developmental and epileptic encephalopathy 26",
        "description": "A developmental and epileptic encephalopathy characterized by onset in the first years of life of seizures, developmental delay, intellectual disability, poor speech, and behavioral abnormalities that has_material_basis_in heterozygous mutation in the KCNB1 gene on chromosome 20q13."
    },
    "synonyms": [
        {
            "id": "DOID:0080461",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080461",
            "name": "DEE26",
            "description": ""
        },
        {
            "id": "DOID:0080461",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080461",
            "name": "early infantile epileptic encephalopathy 26",
            "description": ""
        },
        {
            "id": "MONDO:0014477",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014477",
            "name": "developmental and epileptic encephalopathy, 26",
            "description": "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the KCNB1 gene."
        },
        {
            "id": "MONDO:0014477",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014477",
            "name": "DEE26",
            "description": ""
        },
        {
            "id": "MONDO:0014477",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014477",
            "name": "EIEE26",
            "description": ""
        },
        {
            "id": "MONDO:0014477",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014477",
            "name": "KCNB1 early infantile epileptic encephalopathy",
            "description": ""
        },
        {
            "id": "MONDO:0014477",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014477",
            "name": "developmental and epileptic encephalopathy 26",
            "description": ""
        },
        {
            "id": "MONDO:0014477",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014477",
            "name": "early infantile epileptic encephalopathy 26",
            "description": ""
        },
        {
            "id": "MONDO:0014477",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014477",
            "name": "early infantile epileptic encephalopathy caused by mutation in KCNB1",
            "description": ""
        },
        {
            "id": "MONDO:0014477",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014477",
            "name": "epileptic encephalopathy, early infantile, 26",
            "description": ""
        },
        {
            "id": "MONDO:0014477",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014477",
            "name": "epileptic encephalopathy, early infantile, type 26",
            "description": ""
        },
        {
            "id": "MIM:616056",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616056",
            "name": "Developmental and epileptic encephalopathy 26",
            "description": "Developmental and epileptic encephalopathy 26"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080461"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080461",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080461",
            "categories": []
        },
        {
            "id": "MONDO:0014477",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014477",
            "categories": []
        },
        {
            "id": "MIM:616056",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616056",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A2R8Q685-1",
            "uniprot_ac": "A0A2R8Q685",
            "uniprot_id": "A0A2R8Q685_DANRE",
            "refseq_ac": "XP_682848",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Potassium voltage-gated channel subfamily B member 1",
                    "type": "recommended"
                },
                {
                    "name": "Voltage-gated potassium channel subunit Kv2.1",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel subfamily B member 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "kcnb1",
                    "type": "recommended"
                },
                {
                    "name": "kcnb1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A2R8Q685-1",
            "evidence": [
                {
                    "id": "0080461",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080461"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q03717-1",
            "uniprot_ac": "Q03717",
            "uniprot_id": "KCNB1_MOUSE",
            "refseq_ac": "NP_032446",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Potassium voltage-gated channel subfamily B member 1",
                    "type": "recommended"
                },
                {
                    "name": "Voltage-gated potassium channel subunit Kv2.1",
                    "type": "synonym"
                },
                {
                    "name": "mShab",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel subfamily B member 1",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated potassium channel subunit Kv2.1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kcnb1",
                    "type": "recommended"
                },
                {
                    "name": "Kcnb1",
                    "type": "synonym"
                },
                {
                    "name": "Kcr1-1",
                    "type": "synonym"
                },
                {
                    "name": "Kv2.1",
                    "type": "synonym"
                },
                {
                    "name": "Shab",
                    "type": "synonym"
                }
            ],
            "record_id": "Q03717-1",
            "evidence": [
                {
                    "id": "0080461",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080461"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q14721-1",
            "uniprot_ac": "Q14721",
            "uniprot_id": "KCNB1_HUMAN",
            "refseq_ac": "NP_004966",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Potassium voltage-gated channel subfamily B member 1",
                    "type": "recommended"
                },
                {
                    "name": "DRK1",
                    "type": "synonym"
                },
                {
                    "name": "Delayed rectifier potassium channel 1",
                    "type": "synonym"
                },
                {
                    "name": "Voltage-gated potassium channel subunit Kv2.1",
                    "type": "synonym"
                },
                {
                    "name": "delayed rectifier potassium channel 1",
                    "type": "synonym"
                },
                {
                    "name": "h-DRK1",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel subfamily B member 1",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel, Shab-related subfamily, member 1",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated potassium channel subunit Kv2.1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KCNB1",
                    "type": "recommended"
                },
                {
                    "name": "DEE26",
                    "type": "synonym"
                },
                {
                    "name": "DRK1",
                    "type": "synonym"
                },
                {
                    "name": "KCNB1",
                    "type": "synonym"
                },
                {
                    "name": "Kv2.1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q14721-1",
            "evidence": [
                {
                    "id": "616056",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616056"
                },
                {
                    "id": "0080461",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080461"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P15387-1",
            "uniprot_ac": "P15387",
            "uniprot_id": "KCNB1_RAT",
            "refseq_ac": "NP_037318",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Potassium voltage-gated channel subfamily B member 1",
                    "type": "recommended"
                },
                {
                    "name": "DRK1",
                    "type": "synonym"
                },
                {
                    "name": "Delayed rectifier potassium channel 1",
                    "type": "synonym"
                },
                {
                    "name": "Voltage-gated potassium channel subunit Kv2.1",
                    "type": "synonym"
                },
                {
                    "name": "delayed rectifier potassium channel 1",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel Kv2.1",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel, voltage gated Shab-related subfamily B, member 1",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage gated channel, Shab-related subfamily, member 1",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel subfamily B member 1",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated potassium channel subunit Kv2.1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kcnb1",
                    "type": "recommended"
                },
                {
                    "name": "DRK1PC",
                    "type": "synonym"
                },
                {
                    "name": "Kcnb1",
                    "type": "synonym"
                },
                {
                    "name": "Kcr1-1",
                    "type": "synonym"
                },
                {
                    "name": "Kv2.1",
                    "type": "synonym"
                },
                {
                    "name": "Shab",
                    "type": "synonym"
                }
            ],
            "record_id": "P15387-1",
            "evidence": [
                {
                    "id": "0080461",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080461"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P17970-1",
            "uniprot_ac": "P17970",
            "uniprot_id": "KCNAB_DROME",
            "refseq_ac": "NP_523894",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Potassium voltage-gated channel protein Shab",
                    "type": "recommended"
                },
                {
                    "name": "CG43128-PB",
                    "type": "synonym"
                },
                {
                    "name": "Shab-PB",
                    "type": "synonym"
                },
                {
                    "name": "shaker cognate b, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "shaker",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Shab",
                    "type": "recommended"
                },
                {
                    "name": "CG1066",
                    "type": "synonym"
                },
                {
                    "name": "CG43128",
                    "type": "synonym"
                },
                {
                    "name": "CG9965",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG43128",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG43128",
                    "type": "synonym"
                },
                {
                    "name": "K[[v]]2",
                    "type": "synonym"
                },
                {
                    "name": "Kv2",
                    "type": "synonym"
                },
                {
                    "name": "Shab",
                    "type": "synonym"
                },
                {
                    "name": "dShab",
                    "type": "synonym"
                },
                {
                    "name": "shab",
                    "type": "synonym"
                },
                {
                    "name": "shb",
                    "type": "synonym"
                }
            ],
            "record_id": "P17970-1",
            "evidence": [
                {
                    "id": "0080461",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080461"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UI46-1",
            "uniprot_ac": "Q9UI46",
            "uniprot_id": "DNAI1_HUMAN",
            "refseq_ac": "NP_001268357",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dynein axonemal intermediate chain 1",
                    "type": "recommended"
                },
                {
                    "name": "Axonemal dynein intermediate chain 1",
                    "type": "synonym"
                },
                {
                    "name": "dynein axonemal intermediate chain 1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "dynein, axonemal, intermediate polypeptide 1",
                    "type": "synonym"
                },
                {
                    "name": "immotile cilia syndrome 1",
                    "type": "synonym"
                },
                {
                    "name": "testis tissue sperm-binding protein Li 87P",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DNAI1",
                    "type": "recommended"
                },
                {
                    "name": "CILD1",
                    "type": "synonym"
                },
                {
                    "name": "DIC1",
                    "type": "synonym"
                },
                {
                    "name": "DNAI1",
                    "type": "synonym"
                },
                {
                    "name": "ICS1",
                    "type": "synonym"
                },
                {
                    "name": "PCD",
                    "type": "synonym"
                },
                {
                    "name": "oda6",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UI46-1",
            "evidence": [
                {
                    "id": "0080461",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080461"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080461"
}