{
    "disease_id": "DOID:0090034",
    "recommended_name": {
        "id": "DOID:0090034",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0090034",
        "name": "myoclonic dystonia 11",
        "description": "A myoclonic dystonia that is characterized by myoclonic jerks affecting mostly proximal muscles, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the epsilon-sarcoglycan gene (SGCE) on chromosome 7q21."
    },
    "synonyms": [
        {
            "id": "MONDO:0008044",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008044",
            "name": "myoclonic dystonia 11",
            "description": "Any myoclonus-dystonia syndrome in which the cause of the disease is a mutation in the SGCE gene."
        },
        {
            "id": "MONDO:0008044",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008044",
            "name": "SGCE myoclonus-dystonia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008044",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008044",
            "name": "alcohol-responsive dystonia",
            "description": ""
        },
        {
            "id": "MONDO:0008044",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008044",
            "name": "dystonia-11, myoclonic",
            "description": ""
        },
        {
            "id": "MONDO:0008044",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008044",
            "name": "myoclonic dystonia 11",
            "description": ""
        },
        {
            "id": "MONDO:0008044",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008044",
            "name": "myoclonic dystonia type 11",
            "description": ""
        },
        {
            "id": "MONDO:0008044",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008044",
            "name": "myoclonus-dystonia syndrome caused by mutation in SGCE",
            "description": ""
        },
        {
            "id": "MONDO:0008044",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008044",
            "name": "DYT11",
            "description": ""
        },
        {
            "id": "MONDO:0008044",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008044",
            "name": "dystonia 11, myoclonic",
            "description": ""
        },
        {
            "id": "MIM:159900",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/159900",
            "name": "Dystonia 11, myoclonic",
            "description": "Dystonia 11, myoclonic"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0090034"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0090034",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090034",
            "categories": []
        },
        {
            "id": "MONDO:0008044",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008044",
            "categories": []
        },
        {
            "id": "MIM:159900",
            "database": "MIM",
            "url": "https://www.omim.org/entry/159900",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9P1Q4-1",
            "uniprot_ac": "A0A8M9P1Q4",
            "uniprot_id": "A0A8M9P1Q4_DANRE",
            "refseq_ac": "XP_021323677",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Epsilon-sarcoglycan",
                    "type": "recommended"
                },
                {
                    "name": "epsilon-sarcoglycan isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "sgce",
                    "type": "recommended"
                },
                {
                    "name": "scge",
                    "type": "synonym"
                },
                {
                    "name": "sgce",
                    "type": "synonym"
                },
                {
                    "name": "zgc:92318",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9P1Q4-1",
            "evidence": [
                {
                    "id": "0090034",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090034"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O70258-1",
            "uniprot_ac": "O70258",
            "uniprot_id": "SGCE_MOUSE",
            "refseq_ac": "NP_001123660",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Epsilon-sarcoglycan",
                    "type": "recommended"
                },
                {
                    "name": "Epsilon-SG",
                    "type": "synonym"
                },
                {
                    "name": "epsilon-SG",
                    "type": "synonym"
                },
                {
                    "name": "epsilon-sarcoglycan isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "epsilon-sarcoglycan",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sgce",
                    "type": "recommended"
                },
                {
                    "name": "Sgce",
                    "type": "synonym"
                },
                {
                    "name": "e-SG",
                    "type": "synonym"
                }
            ],
            "record_id": "O70258-1",
            "evidence": [
                {
                    "id": "0090034",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090034"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O43556-1",
            "uniprot_ac": "O43556",
            "uniprot_id": "SGCE_HUMAN",
            "refseq_ac": "NP_001092870",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Epsilon-sarcoglycan",
                    "type": "recommended"
                },
                {
                    "name": "Epsilon-SG",
                    "type": "synonym"
                },
                {
                    "name": "dystonia 11, myoclonic",
                    "type": "synonym"
                },
                {
                    "name": "epsilon-sarcoglycan isoform 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SGCE",
                    "type": "recommended"
                },
                {
                    "name": "DYT11",
                    "type": "synonym"
                },
                {
                    "name": "ESG",
                    "type": "synonym"
                },
                {
                    "name": "PRO840",
                    "type": "synonym"
                },
                {
                    "name": "SGCE",
                    "type": "synonym"
                },
                {
                    "name": "epsilon-SG",
                    "type": "synonym"
                }
            ],
            "record_id": "O43556-1",
            "evidence": [
                {
                    "id": "159900",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/159900"
                },
                {
                    "id": "0090034",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090034"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6YAT4-1",
            "uniprot_ac": "Q6YAT4",
            "uniprot_id": "SGCE_RAT",
            "refseq_ac": "NP_001002023",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Epsilon-sarcoglycan",
                    "type": "recommended"
                },
                {
                    "name": "Epsilon-SG",
                    "type": "synonym"
                },
                {
                    "name": "epsilon-SG",
                    "type": "synonym"
                },
                {
                    "name": "epsilon-sarcoglycan",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sgce",
                    "type": "recommended"
                },
                {
                    "name": "Sgce",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6YAT4-1",
            "evidence": [
                {
                    "id": "0090034",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090034"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "M9PF78-1",
            "uniprot_ac": "M9PF78",
            "uniprot_id": "M9PF78_DROME",
            "refseq_ac": "NP_001260246",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG7851-PC",
                    "type": "synonym"
                },
                {
                    "name": "Sarcoglycan alpha, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "Scgalpha-PC",
                    "type": "synonym"
                },
                {
                    "name": "sarcoglycan alpha, isoform C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Scgalpha",
                    "type": "recommended"
                },
                {
                    "name": "CG7851",
                    "type": "synonym"
                },
                {
                    "name": "DmSCG-alphaepsilon",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7851",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG7851",
                    "type": "synonym"
                },
                {
                    "name": "Scg alpha",
                    "type": "synonym"
                },
                {
                    "name": "Scg-alpha",
                    "type": "synonym"
                },
                {
                    "name": "Scgalpha",
                    "type": "synonym"
                },
                {
                    "name": "Scga",
                    "type": "synonym"
                }
            ],
            "record_id": "M9PF78-1",
            "evidence": [
                {
                    "id": "0090034",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090034"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0090034"
}