{
    "disease_id": "DOID:0070389",
    "recommended_name": {
        "id": "DOID:0070389",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070389",
        "name": "developmental and epileptic encephalopathy 103",
        "description": "A developmental and epileptic encephalopathy characterized by onset of various types of seizures in the first year of life that has_material_basis_in heterozygous mutation in the KCNC2 gene on chromosome 12q21."
    },
    "synonyms": [
        {
            "id": "DOID:0070389",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070389",
            "name": "DEE103",
            "description": ""
        },
        {
            "id": "DOID:0070389",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070389",
            "name": "early infantile epileptic encephalopathy 103",
            "description": ""
        },
        {
            "id": "MONDO:0030957",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030957",
            "name": "developmental and epileptic encephalopathy 103",
            "description": ""
        },
        {
            "id": "MONDO:0030957",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030957",
            "name": "DEE103",
            "description": ""
        },
        {
            "id": "MONDO:0030957",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030957",
            "name": "developmental and epileptic encephalopathy 103",
            "description": ""
        },
        {
            "id": "MIM:619913",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619913",
            "name": "Developmental and epileptic encephalopathy 103",
            "description": "Developmental and epileptic encephalopathy 103"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070389"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070389",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070389",
            "categories": []
        },
        {
            "id": "MONDO:0030957",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030957",
            "categories": []
        },
        {
            "id": "MIM:619913",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619913",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q14B80-1",
            "uniprot_ac": "Q14B80",
            "uniprot_id": "KCNC2_MOUSE",
            "refseq_ac": "NP_001346681",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Voltage-gated potassium channel KCNC2",
                    "type": "recommended"
                },
                {
                    "name": "Potassium voltage-gated channel subfamily C member 2",
                    "type": "synonym"
                },
                {
                    "name": "Shaw-like potassium channel",
                    "type": "synonym"
                },
                {
                    "name": "Voltage-gated potassium channel Kv3.2",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel subfamily C member 2",
                    "type": "synonym"
                },
                {
                    "name": "shaw-like potassium channel",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated potassium channel KCNC2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated potassium channel KCNC2",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated potassium channel Kv3.2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kcnc2",
                    "type": "recommended"
                },
                {
                    "name": "B230117I07",
                    "type": "synonym"
                },
                {
                    "name": "KShIIIA",
                    "type": "synonym"
                },
                {
                    "name": "Kcnc2",
                    "type": "synonym"
                },
                {
                    "name": "Kv3.2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q14B80-1",
            "evidence": [
                {
                    "id": "0070389",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070389"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96PR1-1",
            "uniprot_ac": "Q96PR1",
            "uniprot_id": "KCNC2_HUMAN",
            "refseq_ac": "NP_001247426",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Voltage-gated potassium channel KCNC2",
                    "type": "recommended"
                },
                {
                    "name": "Potassium voltage-gated channel subfamily C member 2",
                    "type": "synonym"
                },
                {
                    "name": "Shaw-like potassium channel",
                    "type": "synonym"
                },
                {
                    "name": "Voltage-gated potassium channel Kv3.2",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel, voltage gated Shaw related subfamily C, member 2",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel, Shaw-related subfamily, member 2",
                    "type": "synonym"
                },
                {
                    "name": "shaw-like potassium channel",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated potassium channel KCNC2 isoform 4",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated potassium channel KCNC2",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated potassium channel Kv3.2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KCNC2",
                    "type": "recommended"
                },
                {
                    "name": "DEE103",
                    "type": "synonym"
                },
                {
                    "name": "KCNC2",
                    "type": "synonym"
                },
                {
                    "name": "KV3.2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96PR1-1",
            "evidence": [
                {
                    "id": "619913",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619913"
                },
                {
                    "id": "0070389",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070389"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P22462-1",
            "uniprot_ac": "P22462",
            "uniprot_id": "KCNC2_RAT",
            "refseq_ac": "NP_631962",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Voltage-gated potassium channel KCNC2",
                    "type": "recommended"
                },
                {
                    "name": "Potassium channel voltage-gated Shaw-related subfamily C member 2",
                    "type": "synonym"
                },
                {
                    "name": "Potassium voltage-gated channel subfamily C member 2",
                    "type": "synonym"
                },
                {
                    "name": "Shaw-like potassium channel",
                    "type": "synonym"
                },
                {
                    "name": "Voltage-gated potassium channel subunit Kv3.2",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel voltage-gated Shaw-related subfamily C member 2",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage gated channel, Shaw-related subfamily, member 2",
                    "type": "synonym"
                },
                {
                    "name": "shaw-like potassium channel",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated potassium channel KCNC2 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated potassium channel KCNC2",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated potassium channel subunit Kv3.2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kcnc2",
                    "type": "recommended"
                },
                {
                    "name": "KShIIIA",
                    "type": "synonym"
                },
                {
                    "name": "Kcnc2",
                    "type": "synonym"
                },
                {
                    "name": "Kv3.2",
                    "type": "synonym"
                }
            ],
            "record_id": "P22462-1",
            "evidence": [
                {
                    "id": "0070389",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070389"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P17972-1",
            "uniprot_ac": "P17972",
            "uniprot_id": "KCNAW_DROME",
            "refseq_ac": "NP_476721",
            "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 Shaw",
                    "type": "recommended"
                },
                {
                    "name": "CG2822-PA",
                    "type": "synonym"
                },
                {
                    "name": "Shaw-PA",
                    "type": "synonym"
                },
                {
                    "name": "Shaw2",
                    "type": "synonym"
                },
                {
                    "name": "shaker cognate w, isoform A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Shaw",
                    "type": "recommended"
                },
                {
                    "name": "CG15419",
                    "type": "synonym"
                },
                {
                    "name": "CG2822",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG2822",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG2822",
                    "type": "synonym"
                },
                {
                    "name": "K[[v]]3",
                    "type": "synonym"
                },
                {
                    "name": "Kv3.1",
                    "type": "synonym"
                },
                {
                    "name": "Kv3",
                    "type": "synonym"
                },
                {
                    "name": "SHAW2",
                    "type": "synonym"
                },
                {
                    "name": "Shaw2",
                    "type": "synonym"
                },
                {
                    "name": "Shaw",
                    "type": "synonym"
                },
                {
                    "name": "dShaw2",
                    "type": "synonym"
                },
                {
                    "name": "dShaw",
                    "type": "synonym"
                },
                {
                    "name": "shaw",
                    "type": "synonym"
                }
            ],
            "record_id": "P17972-1",
            "evidence": [
                {
                    "id": "0070389",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070389"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A8DYR5-1",
            "uniprot_ac": "A8DYR5",
            "uniprot_id": "A8DYR5_DROME",
            "refseq_ac": "NP_001097131",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG34366-PC",
                    "type": "synonym"
                },
                {
                    "name": "Shaw-like, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "Shawl-PC",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Shawl",
                    "type": "recommended"
                },
                {
                    "name": "CG13111",
                    "type": "synonym"
                },
                {
                    "name": "CG34366",
                    "type": "synonym"
                },
                {
                    "name": "CG4450",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG34366",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG34366",
                    "type": "synonym"
                },
                {
                    "name": "Kv3.2",
                    "type": "synonym"
                },
                {
                    "name": "Kv3",
                    "type": "synonym"
                },
                {
                    "name": "Shawl",
                    "type": "synonym"
                },
                {
                    "name": "shawl",
                    "type": "synonym"
                }
            ],
            "record_id": "A8DYR5-1",
            "evidence": [
                {
                    "id": "0070389",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070389"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070389"
}