{
    "disease_id": "DOID:0111447",
    "recommended_name": {
        "id": "DOID:0111447",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111447",
        "name": "progressive myoclonus epilepsy 7",
        "description": "A progressive myoclonus epilepsy characterized by onset of severe progressive myoclonus and infrequent tonic-clonic seizures in the first or second decades of life that has_material_basis_in heterozygous mutation in the KCNC1 gene on chromosome 11p15.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111447",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111447",
            "name": "Progressive myoclonic epilepsy due to KV3.1 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111447",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111447",
            "name": "EPM7",
            "description": ""
        },
        {
            "id": "DOID:0111447",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111447",
            "name": "MEAK",
            "description": ""
        },
        {
            "id": "DOID:0111447",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111447",
            "name": "PME type 7",
            "description": ""
        },
        {
            "id": "DOID:0111447",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111447",
            "name": "Progressive myoclonus epilepsy type 7",
            "description": ""
        },
        {
            "id": "DOID:0111447",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111447",
            "name": "Myoclonus epilepsy and ataxia due to potassium channel mutation",
            "description": ""
        },
        {
            "id": "MONDO:0014521",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014521",
            "name": "progressive myoclonic epilepsy type 7",
            "description": "Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the KCNC1 gene."
        },
        {
            "id": "MONDO:0014521",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014521",
            "name": "EPM7",
            "description": ""
        },
        {
            "id": "MONDO:0014521",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014521",
            "name": "KCNC1 progressive myoclonic epilepsy",
            "description": ""
        },
        {
            "id": "MONDO:0014521",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014521",
            "name": "MEAK",
            "description": ""
        },
        {
            "id": "MONDO:0014521",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014521",
            "name": "PME type 7",
            "description": ""
        },
        {
            "id": "MONDO:0014521",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014521",
            "name": "epilepsy, progressive myoclonic type 7",
            "description": ""
        },
        {
            "id": "MONDO:0014521",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014521",
            "name": "meak",
            "description": ""
        },
        {
            "id": "MONDO:0014521",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014521",
            "name": "myoclonus epilepsy and ataxia due to potassium channel mutation",
            "description": ""
        },
        {
            "id": "MONDO:0014521",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014521",
            "name": "progressive myoclonic epilepsy caused by mutation in KCNC1",
            "description": ""
        },
        {
            "id": "MONDO:0014521",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014521",
            "name": "progressive myoclonic epilepsy due to KV3.1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014521",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014521",
            "name": "progressive myoclonus epilepsy type 7",
            "description": ""
        },
        {
            "id": "MONDO:0014521",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014521",
            "name": "epilepsy, progressive myoclonic 7",
            "description": ""
        },
        {
            "id": "MIM:616187",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616187",
            "name": "Epilepsy, progressive myoclonic 7",
            "description": "Epilepsy, progressive myoclonic 7"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111447"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111447",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111447",
            "categories": []
        },
        {
            "id": "MONDO:0014521",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014521",
            "categories": []
        },
        {
            "id": "MIM:616187",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616187",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1Q4T7-1",
            "uniprot_ac": "F1Q4T7",
            "uniprot_id": "F1Q4T7_DANRE",
            "refseq_ac": "NP_001182126",
            "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 C member 1b isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel subfamily C member 1b",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated potassium channel Kv3.1b",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "kcnc1b",
                    "type": "recommended"
                },
                {
                    "name": "kcnc1b",
                    "type": "synonym"
                }
            ],
            "record_id": "F1Q4T7-1",
            "evidence": [
                {
                    "id": "0111447",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111447"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P15388-1",
            "uniprot_ac": "P15388",
            "uniprot_id": "KCNC1_MOUSE",
            "refseq_ac": "NP_032447",
            "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 KCNC1",
                    "type": "recommended"
                },
                {
                    "name": "NGK2",
                    "type": "synonym"
                },
                {
                    "name": "Potassium voltage-gated channel subfamily C member 1",
                    "type": "synonym"
                },
                {
                    "name": "Voltage-gated potassium channel subunit Kv3.1",
                    "type": "synonym"
                },
                {
                    "name": "Voltage-gated potassium channel subunit Kv4",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel subfamily C member 1",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated potassium channel KCNC1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated potassium channel KCNC1",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated potassium channel subunit Kv3.1",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated potassium channel subunit Kv4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kcnc1",
                    "type": "recommended"
                },
                {
                    "name": "C230009H10Rik",
                    "type": "synonym"
                },
                {
                    "name": "KShIIIB",
                    "type": "synonym"
                },
                {
                    "name": "KV4",
                    "type": "synonym"
                },
                {
                    "name": "Kcnc1",
                    "type": "synonym"
                },
                {
                    "name": "Kcr2-1",
                    "type": "synonym"
                },
                {
                    "name": "Kv3.1",
                    "type": "synonym"
                },
                {
                    "name": "NGK2",
                    "type": "synonym"
                },
                {
                    "name": "Shaw",
                    "type": "synonym"
                }
            ],
            "record_id": "P15388-1",
            "evidence": [
                {
                    "id": "0111447",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111447"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P48547-1",
            "uniprot_ac": "P48547",
            "uniprot_id": "KCNC1_HUMAN",
            "refseq_ac": "NP_001106212",
            "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 KCNC1",
                    "type": "recommended"
                },
                {
                    "name": "NGK2",
                    "type": "synonym"
                },
                {
                    "name": "Potassium voltage-gated channel subfamily C member 1",
                    "type": "synonym"
                },
                {
                    "name": "Voltage-gated potassium channel subunit Kv3.1",
                    "type": "synonym"
                },
                {
                    "name": "Voltage-gated potassium channel subunit Kv4",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel, voltage gated Shaw related subfamily C, member 1",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated potassium channel KCNC1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated potassium channel KCNC1",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated potassium channel protein KV3.1",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated potassium channel subunit Kv4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KCNC1",
                    "type": "recommended"
                },
                {
                    "name": "EPM7",
                    "type": "synonym"
                },
                {
                    "name": "KCNC1",
                    "type": "synonym"
                },
                {
                    "name": "KV3.1",
                    "type": "synonym"
                },
                {
                    "name": "KV4",
                    "type": "synonym"
                },
                {
                    "name": "NGK2",
                    "type": "synonym"
                }
            ],
            "record_id": "P48547-1",
            "evidence": [
                {
                    "id": "616187",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616187"
                },
                {
                    "id": "0111447",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111447"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P25122-1",
            "uniprot_ac": "P25122",
            "uniprot_id": "KCNC1_RAT",
            "refseq_ac": "NP_036988",
            "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 KCNC1",
                    "type": "recommended"
                },
                {
                    "name": "NGK2",
                    "type": "synonym"
                },
                {
                    "name": "Potassium channel gene 1 (alternative splicing product described in Luneau et al 1991)",
                    "type": "synonym"
                },
                {
                    "name": "Potassium voltage-gated channel subfamily C member 1",
                    "type": "synonym"
                },
                {
                    "name": "RAW2",
                    "type": "synonym"
                },
                {
                    "name": "Voltage-gated potassium channel subunit Kv3.1",
                    "type": "synonym"
                },
                {
                    "name": "Voltage-gated potassium channel subunit Kv4",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel, voltage gated Shaw-related subfamily C, member 1",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage gated channel, Shaw-related subfamily, member 1",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated potassium channel KCNC1",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated potassium channel subunit Kv3.1",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated potassium channel subunit Kv4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kcnc1",
                    "type": "recommended"
                },
                {
                    "name": "KShIIIB",
                    "type": "synonym"
                },
                {
                    "name": "Kcnc1",
                    "type": "synonym"
                },
                {
                    "name": "Kv3.1",
                    "type": "synonym"
                },
                {
                    "name": "Kv4",
                    "type": "synonym"
                },
                {
                    "name": "NGK2-KV4",
                    "type": "synonym"
                }
            ],
            "record_id": "P25122-1",
            "evidence": [
                {
                    "id": "0111447",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111447"
                }
            ]
        },
        {
            "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": "0111447",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111447"
                }
            ]
        },
        {
            "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",
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                {
                    "id": "0111447",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111447"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O96015-1",
            "uniprot_ac": "O96015",
            "uniprot_id": "DNAL4_HUMAN",
            "refseq_ac": "NP_005731",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dynein axonemal light chain 4",
                    "type": "recommended"
                },
                {
                    "name": "dynein axonemal light chain 4",
                    "type": "synonym"
                },
                {
                    "name": "dynein light chain, outer arm 4",
                    "type": "synonym"
                },
                {
                    "name": "dynein, axonemal, light polypeptide 4",
                    "type": "synonym"
                },
                {
                    "name": "proliferation-inducing gene 27",
                    "type": "synonym"
                },
                {
                    "name": "proliferation-inducing protein 27",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DNAL4",
                    "type": "recommended"
                },
                {
                    "name": "DNAL4",
                    "type": "synonym"
                },
                {
                    "name": "MRMV3",
                    "type": "synonym"
                },
                {
                    "name": "PIG27",
                    "type": "synonym"
                }
            ],
            "record_id": "O96015-1",
            "evidence": [
                {
                    "id": "0111447",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111447"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111447"
}