{
    "disease_id": "DOID:0080462",
    "recommended_name": {
        "id": "DOID:0080462",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080462",
        "name": "developmental and epileptic encephalopathy 7",
        "description": "A developmental and epileptic encephalopathy characterized by infantile onset of refractory seizures, delayed neurological development, and persistent neurologic abnormalities that has_material_basis_in heterozygous mutation in the KCNQ2 gene on chromosome 20q13."
    },
    "synonyms": [
        {
            "id": "DOID:0080462",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080462",
            "name": "KCNQ2-related epileptic encephalopathy",
            "description": ""
        },
        {
            "id": "DOID:0080462",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080462",
            "name": "KCNQ2-related neonatal epileptic encephalopathy",
            "description": ""
        },
        {
            "id": "DOID:0080462",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080462",
            "name": "early infantile epileptic encephalopathy 7",
            "description": ""
        },
        {
            "id": "MONDO:0013387",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013387",
            "name": "developmental and epileptic encephalopathy, 7",
            "description": "KCNQ2-related epileptic encephalopathy is a severe form of neonatal epilepsy that usually manifests in newborns during the first week of life with seizures (that affect alternatively both sides of the body), often accompanied by clonic jerking or more complex motor behavior, as well as signs of encephalopathy such as diffuse hypotonia, limb spasticity, lack of visual fixation and tracking and mild to moderate intellectual deficiency. The severity can range from controlled to intractable seizures and mild/moderate to severe intellectual disability."
        },
        {
            "id": "MONDO:0013387",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013387",
            "name": "DEE7",
            "description": ""
        },
        {
            "id": "MONDO:0013387",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013387",
            "name": "EIEE7",
            "description": ""
        },
        {
            "id": "MONDO:0013387",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013387",
            "name": "KCNQ2-NEE",
            "description": ""
        },
        {
            "id": "MONDO:0013387",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013387",
            "name": "developmental and epileptic encephalopathy 7",
            "description": ""
        },
        {
            "id": "MONDO:0013387",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013387",
            "name": "epileptic encephalopathy, early infantile, 7",
            "description": ""
        },
        {
            "id": "MONDO:0013387",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013387",
            "name": "epileptic encephalopathy, early infantile, type 7",
            "description": ""
        },
        {
            "id": "MONDO:0013387",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013387",
            "name": "KCNQ2-related disorders",
            "description": ""
        },
        {
            "id": "MIM:613720",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613720",
            "name": "Developmental and epileptic encephalopathy 7",
            "description": "Developmental and epileptic encephalopathy 7"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080462"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080462",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080462",
            "categories": []
        },
        {
            "id": "MONDO:0013387",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013387",
            "categories": []
        },
        {
            "id": "MIM:613720",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613720",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9PQX0-1",
            "uniprot_ac": "A0A8M9PQX0",
            "uniprot_id": "A0A8M9PQX0_DANRE",
            "refseq_ac": "XP_021323522",
            "glycoprotein": "yes",
            "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 KQT member 3",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel subfamily KQT member 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "kcnq3",
                    "type": "recommended"
                },
                {
                    "name": "kcnq3",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9PQX0-1",
            "evidence": [
                {
                    "id": "0080462",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080462"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0AC58H4V5-1",
            "uniprot_ac": "A0AC58H4V5",
            "uniprot_id": "A0AC58H4V5_DANRE",
            "refseq_ac": "XP_073777019",
            "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 KQT member 5 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel subfamily KQT member 5 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "kcnq5a",
                    "type": "recommended"
                },
                {
                    "name": "kcnq5a",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58H4V5-1",
            "evidence": [
                {
                    "id": "0080462",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080462"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Z351-1",
            "uniprot_ac": "Q9Z351",
            "uniprot_id": "KCNQ2_MOUSE",
            "refseq_ac": "NP_001006675",
            "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 KQT member 2",
                    "type": "recommended"
                },
                {
                    "name": "KQT-like 2",
                    "type": "synonym"
                },
                {
                    "name": "Potassium channel subunit alpha KvLQT2",
                    "type": "synonym"
                },
                {
                    "name": "Voltage-gated potassium channel subunit Kv7.2",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel subunit alpha KvLQT2",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel subfamily KQT member 2 isoform 6",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel subfamily KQT member 2",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated potassium channel subunit Kv7.2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kcnq2",
                    "type": "recommended"
                },
                {
                    "name": "HNSPC",
                    "type": "synonym"
                },
                {
                    "name": "KQT2",
                    "type": "synonym"
                },
                {
                    "name": "Kcnq2",
                    "type": "synonym"
                },
                {
                    "name": "Kqt2",
                    "type": "synonym"
                },
                {
                    "name": "Nmf134",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Z351-1",
            "evidence": [
                {
                    "id": "0080462",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080462"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8K3F6-1",
            "uniprot_ac": "Q8K3F6",
            "uniprot_id": "KCNQ3_MOUSE",
            "refseq_ac": "NP_690887",
            "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 KQT member 3",
                    "type": "recommended"
                },
                {
                    "name": "KQT-like 3",
                    "type": "synonym"
                },
                {
                    "name": "Potassium channel subunit alpha KvLQT3",
                    "type": "synonym"
                },
                {
                    "name": "Voltage-gated potassium channel subunit Kv7.3",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel subunit alpha KvLQT3",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel subfamily KQT member 3",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated potassium channel subunit Kv7.3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kcnq3",
                    "type": "recommended"
                },
                {
                    "name": "Kcnq3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8K3F6-1",
            "evidence": [
                {
                    "id": "0080462",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080462"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9JK45-1",
            "uniprot_ac": "Q9JK45",
            "uniprot_id": "KCNQ5_MOUSE",
            "refseq_ac": "NP_076361",
            "glycoprotein": "no",
            "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 KQT member 5",
                    "type": "recommended"
                },
                {
                    "name": "KQT-like 5",
                    "type": "synonym"
                },
                {
                    "name": "Potassium channel subunit alpha KvLQT5",
                    "type": "synonym"
                },
                {
                    "name": "Voltage-gated potassium channel subunit Kv7.5",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel subunit alpha KvLQT5",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel subfamily KQT member 5 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel subfamily KQT member 5",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated potassium channel subunit Kv7.5",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated potassium channel type Kv7.5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kcnq5",
                    "type": "recommended"
                },
                {
                    "name": "7730402H11",
                    "type": "synonym"
                },
                {
                    "name": "9230107O05Rik",
                    "type": "synonym"
                },
                {
                    "name": "D1Mgi1",
                    "type": "synonym"
                },
                {
                    "name": "Kcnq5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9JK45-1",
            "evidence": [
                {
                    "id": "0080462",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080462"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9JK97-1",
            "uniprot_ac": "Q9JK97",
            "uniprot_id": "KCNQ4_MOUSE",
            "refseq_ac": "NP_001074611",
            "glycoprotein": "no",
            "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 KQT member 4",
                    "type": "recommended"
                },
                {
                    "name": "KQT-like 4",
                    "type": "synonym"
                },
                {
                    "name": "Potassium channel subunit alpha KvLQT4",
                    "type": "synonym"
                },
                {
                    "name": "Voltage-gated potassium channel subunit Kv7.4",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel subunit alpha KvLQT4",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel subfamily KQT member 4 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel subfamily KQT member 4",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated potassium channel subunit Kv7.4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kcnq4",
                    "type": "recommended"
                },
                {
                    "name": "Kcnq4",
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                }
            ],
            "record_id": "Q9JK97-1",
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                {
                    "id": "0080462",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080462"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O43526-1",
            "uniprot_ac": "O43526",
            "uniprot_id": "KCNQ2_HUMAN",
            "refseq_ac": "NP_004509",
            "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 KQT member 2",
                    "type": "recommended"
                },
                {
                    "name": "KQT-like 2",
                    "type": "synonym"
                },
                {
                    "name": "Neuroblastoma-specific potassium channel subunit alpha KvLQT2",
                    "type": "synonym"
                },
                {
                    "name": "Voltage-gated potassium channel subunit Kv7.2",
                    "type": "synonym"
                },
                {
                    "name": "neuroblastoma-specific potassium channel subunit alpha KvLQT2",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel, voltage gated KQT-like subfamily Q, member 2",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel subfamily KQT member 2 isoform c",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel subfamily KQT member 2",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated potassium channel subunit Kv7.2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KCNQ2",
                    "type": "recommended"
                },
                {
                    "name": "BFNC",
                    "type": "synonym"
                },
                {
                    "name": "DEE7",
                    "type": "synonym"
                },
                {
                    "name": "EBN1",
                    "type": "synonym"
                },
                {
                    "name": "EBN",
                    "type": "synonym"
                },
                {
                    "name": "ENB1",
                    "type": "synonym"
                },
                {
                    "name": "HNSPC",
                    "type": "synonym"
                },
                {
                    "name": "KCNA11",
                    "type": "synonym"
                },
                {
                    "name": "KCNQ2",
                    "type": "synonym"
                },
                {
                    "name": "KV7.2",
                    "type": "synonym"
                }
            ],
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                    "id": "613720",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613720"
                },
                {
                    "id": "0080462",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080462"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5PQL7-1",
            "uniprot_ac": "Q5PQL7",
            "uniprot_id": "ITM2C_RAT",
            "refseq_ac": "NP_001009674",
            "glycoprotein": "yes",
            "species": [
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                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Integral membrane protein 2C",
                    "type": "recommended"
                },
                {
                    "name": "integral membrane protein 2C",
                    "type": "synonym"
                },
                {
                    "name": "integral membrane protein 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Itm2c",
                    "type": "recommended"
                },
                {
                    "name": "Itm2c",
                    "type": "synonym"
                }
            ],
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                    "id": "0080462",
                    "database": "AGR",
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                }
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        },
        {
            "uniprot_canonical_ac": "O88943-1",
            "uniprot_ac": "O88943",
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                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                {
                    "name": "Potassium voltage-gated channel subfamily KQT member 2",
                    "type": "recommended"
                },
                {
                    "name": "KQT-like 2",
                    "type": "synonym"
                },
                {
                    "name": "Potassium channel subunit alpha KvLQT2",
                    "type": "synonym"
                },
                {
                    "name": "Voltage-gated potassium channel subunit Kv7.2",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel subunit alpha KvLQT2",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel, voltage-gated KQT-like subfamily Q, member 2",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel subfamily KQT member 2",
                    "type": "synonym"
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                {
                    "name": "potassium voltage-gated channel, KQT-like subfamily, member 2",
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                },
                {
                    "name": "voltage-gated potassium channel subunit Kv7.2",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Eef1a1l1",
                    "type": "recommended"
                },
                {
                    "name": "Eef1a2",
                    "type": "recommended"
                },
                {
                    "name": "Kcnq2",
                    "type": "recommended"
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                {
                    "name": "Eef1a1l1",
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                {
                    "name": "Eef1a1",
                    "type": "synonym"
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                {
                    "name": "Kcnq2",
                    "type": "synonym"
                },
                {
                    "name": "LOC100360413",
                    "type": "synonym"
                }
            ],
            "record_id": "O88943-1",
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                {
                    "id": "0080462",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080462"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O88944-1",
            "uniprot_ac": "O88944",
            "uniprot_id": "KCNQ3_RAT",
            "refseq_ac": "",
            "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 KQT member 3",
                    "type": "recommended"
                },
                {
                    "name": "KQT-like 3",
                    "type": "synonym"
                },
                {
                    "name": "Potassium channel subunit alpha KvLQT3",
                    "type": "synonym"
                },
                {
                    "name": "Voltage-gated potassium channel subunit Kv7.3",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Kcnq3",
                    "type": "recommended"
                }
            ],
            "record_id": "O88944-1",
            "evidence": [
                {
                    "id": "0080462",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080462"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I5ZXW9-1",
            "uniprot_ac": "A0A8I5ZXW9",
            "uniprot_id": "A0A8I5ZXW9_RAT",
            "refseq_ac": "XP_038939022",
            "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 Q member 5",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel subfamily KQT member 5 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kcnq5",
                    "type": "recommended"
                },
                {
                    "name": "Kcnq5l",
                    "type": "synonym"
                },
                {
                    "name": "Kcnq5",
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                }
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            ],
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                    "name": "KCNQ5",
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        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080462"
}