{
    "disease_id": "DOID:0111695",
    "recommended_name": {
        "id": "DOID:0111695",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111695",
        "name": "familial adult myoclonic epilepsy 3",
        "description": "A familial adult myoclonic epilepsy characterized by onset between 10 and 40 years of age of cortical tremor, mainly affecting the hands and voice that has_material_basis_in a heterozygous 5-bp repeat expansion in the MARCHF6 gene on chromosome 5p15.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111695",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111695",
            "name": "FAME3",
            "description": ""
        },
        {
            "id": "DOID:0111695",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111695",
            "name": "FCMTE3",
            "description": ""
        },
        {
            "id": "DOID:0111695",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111695",
            "name": "familial cortical myoclonic tremor and epilepsy 3",
            "description": ""
        },
        {
            "id": "MONDO:0013322",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013322",
            "name": "epilepsy, familial adult myoclonic, 3",
            "description": ""
        },
        {
            "id": "MONDO:0013322",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013322",
            "name": "FAME3",
            "description": ""
        },
        {
            "id": "MONDO:0013322",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013322",
            "name": "epilepsy, familial ADULT myoclonic, 3",
            "description": ""
        },
        {
            "id": "MIM:613608",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613608",
            "name": "Epilepsy, familial adult myoclonic, 3",
            "description": "Epilepsy, familial adult myoclonic, 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111695"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111695",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111695",
            "categories": []
        },
        {
            "id": "MONDO:0013322",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013322",
            "categories": []
        },
        {
            "id": "MIM:613608",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613608",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E9QDQ9-1",
            "uniprot_ac": "E9QDQ9",
            "uniprot_id": "E9QDQ9_DANRE",
            "refseq_ac": "NP_001278636",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "E3 ubiquitin-protein ligase MARCHF6",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase MARCHF6",
                    "type": "synonym"
                },
                {
                    "name": "Membrane-associated RING finger protein 6",
                    "type": "synonym"
                },
                {
                    "name": "Membrane-associated RING-CH protein VI",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "marchf6",
                    "type": "recommended"
                },
                {
                    "name": "fa98a02",
                    "type": "synonym"
                },
                {
                    "name": "im:7161807",
                    "type": "synonym"
                },
                {
                    "name": "march6",
                    "type": "synonym"
                },
                {
                    "name": "marchf6",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-40c17.2",
                    "type": "synonym"
                },
                {
                    "name": "wu:fa98a02",
                    "type": "synonym"
                }
            ],
            "record_id": "E9QDQ9-1",
            "evidence": [
                {
                    "id": "0111695",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111695"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6ZQ89-1",
            "uniprot_ac": "Q6ZQ89",
            "uniprot_id": "MARH6_MOUSE",
            "refseq_ac": "NP_766194",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "E3 ubiquitin-protein ligase MARCHF6",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase MARCH6",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase MARCHF6 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase MARCHF6",
                    "type": "synonym"
                },
                {
                    "name": "MARCH-VI",
                    "type": "synonym"
                },
                {
                    "name": "Membrane-associated RING finger protein 6",
                    "type": "synonym"
                },
                {
                    "name": "Membrane-associated RING-CH protein VI",
                    "type": "synonym"
                },
                {
                    "name": "RING-type E3 ubiquitin transferase MARCH6",
                    "type": "synonym"
                },
                {
                    "name": "RING-type E3 ubiquitin transferase MARCHF6",
                    "type": "synonym"
                },
                {
                    "name": "membrane-associated RING finger protein 6",
                    "type": "synonym"
                },
                {
                    "name": "membrane-associated RING-CH protein VI",
                    "type": "synonym"
                },
                {
                    "name": "membrane-associated ring finger (C3HC4) 6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Marchf6",
                    "type": "recommended"
                },
                {
                    "name": "3830408G03",
                    "type": "synonym"
                },
                {
                    "name": "F830029L24Rik",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa0597",
                    "type": "synonym"
                },
                {
                    "name": "March6",
                    "type": "synonym"
                },
                {
                    "name": "Marchf6",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA0597",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6ZQ89-1",
            "evidence": [
                {
                    "id": "0111695",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111695"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O60337-4",
            "uniprot_ac": "O60337",
            "uniprot_id": "MARH6_HUMAN",
            "refseq_ac": "NP_001257589",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "E3 ubiquitin-protein ligase MARCHF6",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "type": "synonym"
                },
                {
                    "name": "Doa10 homolog",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase MARCH6",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase MARCHF6 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase MARCHF6",
                    "type": "synonym"
                },
                {
                    "name": "MARCH-VI",
                    "type": "synonym"
                },
                {
                    "name": "Membrane-associated RING finger protein 6",
                    "type": "synonym"
                },
                {
                    "name": "Membrane-associated RING-CH protein VI",
                    "type": "synonym"
                },
                {
                    "name": "Protein TEB-4",
                    "type": "synonym"
                },
                {
                    "name": "RING finger protein 176",
                    "type": "synonym"
                },
                {
                    "name": "RING-type E3 ubiquitin transferase MARCH6",
                    "type": "synonym"
                },
                {
                    "name": "RING-type E3 ubiquitin transferase MARCHF6",
                    "type": "synonym"
                },
                {
                    "name": "doa10 homolog",
                    "type": "synonym"
                },
                {
                    "name": "membrane associated ring finger 6",
                    "type": "synonym"
                },
                {
                    "name": "membrane-associated RING finger protein 6",
                    "type": "synonym"
                },
                {
                    "name": "membrane-associated RING-CH finger protein 6",
                    "type": "synonym"
                },
                {
                    "name": "membrane-associated RING-CH protein VI",
                    "type": "synonym"
                },
                {
                    "name": "membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MARCHF6",
                    "type": "recommended"
                },
                {
                    "name": "DOA10",
                    "type": "synonym"
                },
                {
                    "name": "FAME3",
                    "type": "synonym"
                },
                {
                    "name": "FCMTE3",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0597",
                    "type": "synonym"
                },
                {
                    "name": "MARCH-VI",
                    "type": "synonym"
                },
                {
                    "name": "MARCH6",
                    "type": "synonym"
                },
                {
                    "name": "MARCHF6",
                    "type": "synonym"
                },
                {
                    "name": "RNF176",
                    "type": "synonym"
                },
                {
                    "name": "TEB4",
                    "type": "synonym"
                }
            ],
            "record_id": "O60337-4",
            "evidence": [
                {
                    "id": "613608",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613608"
                },
                {
                    "id": "0111695",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111695"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P40318-1",
            "uniprot_ac": "P40318",
            "uniprot_id": "DOA10_YEAST",
            "refseq_ac": "NP_012234",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "ERAD-associated E3 ubiquitin-protein ligase DOA10",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase SSM4",
                    "type": "synonym"
                },
                {
                    "name": "RING-type E3 ubiquitin transferase DOA10",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SSM4",
                    "type": "recommended"
                },
                {
                    "name": "DOA10",
                    "type": "synonym"
                },
                {
                    "name": "KIS3",
                    "type": "synonym"
                },
                {
                    "name": "SSM4",
                    "type": "synonym"
                },
                {
                    "name": "YI3299.01C",
                    "type": "synonym"
                },
                {
                    "name": "YI9905.18C",
                    "type": "synonym"
                }
            ],
            "record_id": "P40318-1",
            "evidence": [
                {
                    "id": "0111695",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111695"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1M1F1-1",
            "uniprot_ac": "F1M1F1",
            "uniprot_id": "F1M1F1_RAT",
            "refseq_ac": "XP_008759048",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "E3 ubiquitin-protein ligase MARCHF6",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase MARCHF6 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "Membrane-associated RING finger protein 6",
                    "type": "synonym"
                },
                {
                    "name": "Membrane-associated RING-CH protein VI",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Marchf6",
                    "type": "recommended"
                },
                {
                    "name": "March6",
                    "type": "synonym"
                },
                {
                    "name": "Marchf6",
                    "type": "synonym"
                },
                {
                    "name": "RGD1310927",
                    "type": "synonym"
                },
                {
                    "name": "RGD1565757",
                    "type": "synonym"
                }
            ],
            "record_id": "F1M1F1-1",
            "evidence": [
                {
                    "id": "0111695",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111695"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W023-1",
            "uniprot_ac": "Q9W023",
            "uniprot_id": "Q9W023_DROME",
            "refseq_ac": "NP_001163328",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "RING-type E3 ubiquitin transferase",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "type": "synonym"
                },
                {
                    "name": "CG1317-PC",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG1317",
                    "type": "recommended"
                },
                {
                    "name": "CG1317",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1317",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG1317",
                    "type": "synonym"
                },
                {
                    "name": "Teb4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W023-1",
            "evidence": [
                {
                    "id": "0111695",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111695"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111695"
}