{
    "disease_id": "DOID:0111446",
    "recommended_name": {
        "id": "DOID:0111446",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111446",
        "name": "progressive myoclonus epilepsy 3",
        "description": "A progressive myoclonus epilepsy characterized by onset of intractable myoclonic seizures before age 2 years and developmental regression that has_material_basis_in homozygous or compound heterozygous mutation in the KCTD7 gene on chromosome 7q11.21."
    },
    "synonyms": [
        {
            "id": "DOID:0111446",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111446",
            "name": "CLN14 disease",
            "description": ""
        },
        {
            "id": "DOID:0111446",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111446",
            "name": "EPM3",
            "description": ""
        },
        {
            "id": "DOID:0111446",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111446",
            "name": "PME type 3",
            "description": ""
        },
        {
            "id": "DOID:0111446",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111446",
            "name": "Progressive myoclonus epilepsy type 3",
            "description": ""
        },
        {
            "id": "DOID:0111446",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111446",
            "name": "neuronal ceroid lipofuscinosis 14",
            "description": ""
        },
        {
            "id": "DOID:0111446",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111446",
            "name": "Progressive myoclonic epilepsy due to KCTD7 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012721",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012721",
            "name": "progressive myoclonic epilepsy type 3",
            "description": "Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the KCTD7 gene."
        },
        {
            "id": "MONDO:0012721",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012721",
            "name": "CLN14 disease",
            "description": ""
        },
        {
            "id": "MONDO:0012721",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012721",
            "name": "EPM3",
            "description": ""
        },
        {
            "id": "MONDO:0012721",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012721",
            "name": "KCTD7 progressive myoclonic epilepsy",
            "description": ""
        },
        {
            "id": "MONDO:0012721",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012721",
            "name": "PME type 3",
            "description": ""
        },
        {
            "id": "MONDO:0012721",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012721",
            "name": "epilepsy, progressive myoclonic 3, with or without intracellular inclusions",
            "description": ""
        },
        {
            "id": "MONDO:0012721",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012721",
            "name": "neuronal ceroid lipofuscinosis type 14",
            "description": ""
        },
        {
            "id": "MONDO:0012721",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012721",
            "name": "progressive myoclonic epilepsy caused by mutation in KCTD7",
            "description": ""
        },
        {
            "id": "MONDO:0012721",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012721",
            "name": "progressive myoclonic epilepsy due to KCTD7 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012721",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012721",
            "name": "progressive myoclonic epilepsy type 3",
            "description": ""
        },
        {
            "id": "MONDO:0012721",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012721",
            "name": "progressive myoclonus epilepsy type 3",
            "description": ""
        },
        {
            "id": "MONDO:0012721",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012721",
            "name": "EPM 3",
            "description": ""
        },
        {
            "id": "MONDO:0012721",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012721",
            "name": "epilepsy progressive myoclonic type 3",
            "description": ""
        },
        {
            "id": "MONDO:0012721",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012721",
            "name": "epilepsy, progressive myoclonic, 3, with or without intracellular inclusions",
            "description": ""
        },
        {
            "id": "MONDO:0012721",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012721",
            "name": "progressive myoclonic epilepsy 3",
            "description": ""
        },
        {
            "id": "MIM:611726",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/611726",
            "name": "Epilepsy, progressive myoclonic 3, with or without intracellular inclusions",
            "description": "Epilepsy, progressive myoclonic 3, with or without intracellular inclusions"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111446"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111446",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111446",
            "categories": []
        },
        {
            "id": "MONDO:0012721",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012721",
            "categories": []
        },
        {
            "id": "MIM:611726",
            "database": "MIM",
            "url": "https://www.omim.org/entry/611726",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q0VFV7-1",
            "uniprot_ac": "Q0VFV7",
            "uniprot_id": "KCTD7_DANRE",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "BTB/POZ domain-containing protein KCTD7",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "kctd7",
                    "type": "recommended"
                },
                {
                    "name": "zgc:136884",
                    "type": "synonym"
                }
            ],
            "record_id": "Q0VFV7-1",
            "evidence": [
                {
                    "id": "0111446",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111446"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BJK1-1",
            "uniprot_ac": "Q8BJK1",
            "uniprot_id": "KCTD7_MOUSE",
            "refseq_ac": "NP_766097",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "BTB/POZ domain-containing protein KCTD7",
                    "type": "recommended"
                },
                {
                    "name": "BTB/POZ domain-containing protein KCTD7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kctd7",
                    "type": "recommended"
                },
                {
                    "name": "4932409E18",
                    "type": "synonym"
                },
                {
                    "name": "9430010P06Rik",
                    "type": "synonym"
                },
                {
                    "name": "Kctd7",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BJK1-1",
            "evidence": [
                {
                    "id": "0111446",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111446"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9DBM1-1",
            "uniprot_ac": "Q9DBM1",
            "uniprot_id": "GPTC1_MOUSE",
            "refseq_ac": "NP_080457",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "G patch domain-containing protein 1",
                    "type": "recommended"
                },
                {
                    "name": "G patch domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "evolutionarily conserved G-patch domain containing",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gpatch1",
                    "type": "recommended"
                },
                {
                    "name": "1300003A17Rik",
                    "type": "synonym"
                },
                {
                    "name": "ECGP",
                    "type": "synonym"
                },
                {
                    "name": "Gpatc1",
                    "type": "synonym"
                },
                {
                    "name": "Gpatch1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9DBM1-1",
            "evidence": [
                {
                    "id": "0111446",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111446"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96MP8-1",
            "uniprot_ac": "Q96MP8",
            "uniprot_id": "KCTD7_HUMAN",
            "refseq_ac": "NP_001161433",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "BTB/POZ domain-containing protein KCTD7",
                    "type": "recommended"
                },
                {
                    "name": "BTB/POZ domain-containing protein KCTD7 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "BTB/POZ domain-containing protein KCTD7",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel tetramerisation domain containing 7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KCTD7",
                    "type": "recommended"
                },
                {
                    "name": "CLN14",
                    "type": "synonym"
                },
                {
                    "name": "EPM3",
                    "type": "synonym"
                },
                {
                    "name": "KCTD7",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96MP8-1",
            "evidence": [
                {
                    "id": "611726",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/611726"
                },
                {
                    "id": "0111446",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111446"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P12611-1",
            "uniprot_ac": "P12611",
            "uniprot_id": "WHI2_YEAST",
            "refseq_ac": "NP_014686",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Growth regulation protein",
                    "type": "recommended"
                },
                {
                    "name": "Whi2p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "WHI2",
                    "type": "recommended"
                },
                {
                    "name": "WHI2",
                    "type": "synonym"
                }
            ],
            "record_id": "P12611-1",
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                {
                    "id": "0111446",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111446"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B1WC97-1",
            "uniprot_ac": "B1WC97",
            "uniprot_id": "KCTD7_RAT",
            "refseq_ac": "NP_001121666",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "BTB/POZ domain-containing protein KCTD7",
                    "type": "recommended"
                },
                {
                    "name": "BTB/POZ domain-containing protein KCTD7",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel tetramerisation domain containing 7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kctd7",
                    "type": "recommended"
                },
                {
                    "name": "Kctd7",
                    "type": "synonym"
                }
            ],
            "record_id": "B1WC97-1",
            "evidence": [
                {
                    "id": "0111446",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111446"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1LU70-1",
            "uniprot_ac": "F1LU70",
            "uniprot_id": "F1LU70_RAT",
            "refseq_ac": "NP_001099716",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "G patch domain containing 1",
                    "type": "synonym"
                },
                {
                    "name": "G patch domain-containing protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gpatch1",
                    "type": "recommended"
                },
                {
                    "name": "Gpatc1",
                    "type": "synonym"
                },
                {
                    "name": "Gpatch1",
                    "type": "synonym"
                }
            ],
            "record_id": "F1LU70-1",
            "evidence": [
                {
                    "id": "0111446",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111446"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VUA0-1",
            "uniprot_ac": "Q9VUA0",
            "uniprot_id": "GPTC1_DROME",
            "refseq_ac": "NP_648669",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "G patch domain-containing protein 1 homolog",
                    "type": "recommended"
                },
                {
                    "name": "CG8833-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CG8833",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8833",
                    "type": "synonym"
                },
                {
                    "name": "GPTC1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VUA0-1",
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                {
                    "id": "0111446",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111446"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9BRR8-1",
            "uniprot_ac": "Q9BRR8",
            "uniprot_id": "GPTC1_HUMAN",
            "refseq_ac": "NP_060495",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "G patch domain-containing protein 1",
                    "type": "recommended"
                },
                {
                    "name": "Evolutionarily conserved G-patch domain-containing protein",
                    "type": "synonym"
                },
                {
                    "name": "G patch domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "evolutionarily conserved G patch domain containing",
                    "type": "synonym"
                },
                {
                    "name": "evolutionarily conserved G-patch domain-containing protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GPATCH1",
                    "type": "recommended"
                },
                {
                    "name": "ECGP",
                    "type": "synonym"
                },
                {
                    "name": "GPATC1",
                    "type": "synonym"
                },
                {
                    "name": "GPATCH1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9BRR8-1",
            "evidence": [
                {
                    "id": "0111446",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111446"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111446"
}