{
    "disease_id": "DOID:0112108",
    "recommended_name": {
        "id": "DOID:0112108",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112108",
        "name": "myofibrillar myopathy 10",
        "description": "A myofibrillar myopathy characterized by onset of muscle pain, cramping, and exercise fatigue in the first or second decades of life that has_material_basis_in homozygous or compound heterozygous mutation in the SVIL gene on chromosome 10p11.23."
    },
    "synonyms": [
        {
            "id": "DOID:0112108",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112108",
            "name": "MFM10",
            "description": ""
        },
        {
            "id": "MONDO:0033620",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033620",
            "name": "myofibrillar myopathy 10",
            "description": ""
        },
        {
            "id": "MONDO:0033620",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033620",
            "name": "MFM10",
            "description": ""
        },
        {
            "id": "MIM:619040",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619040",
            "name": "Myopathy, myofibrillar, 10",
            "description": "Myopathy, myofibrillar, 10"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112108"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112108",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112108",
            "categories": []
        },
        {
            "id": "MONDO:0033620",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033620",
            "categories": []
        },
        {
            "id": "MIM:619040",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619040",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AB13ABN4-1",
            "uniprot_ac": "A0AB13ABN4",
            "uniprot_id": "A0AB13ABN4_DANRE",
            "refseq_ac": "NP_001417872",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Supervillin a isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "supervillin a isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "zmp:0000000648",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "svila",
                    "type": "recommended"
                },
                {
                    "name": "sb:cb867",
                    "type": "synonym"
                },
                {
                    "name": "svila",
                    "type": "synonym"
                },
                {
                    "name": "svil",
                    "type": "synonym"
                },
                {
                    "name": "wu:fd05a09",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB13ABN4-1",
            "evidence": [
                {
                    "id": "0112108",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112108"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0AC58GXG4-1",
            "uniprot_ac": "A0AC58GXG4",
            "uniprot_id": "A0AC58GXG4_DANRE",
            "refseq_ac": "XP_073774418",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Supervillin isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "supervillin isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "svild",
                    "type": "recommended"
                },
                {
                    "name": "svild",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58GXG4-1",
            "evidence": [
                {
                    "id": "0112108",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112108"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8K4L3-1",
            "uniprot_ac": "Q8K4L3",
            "uniprot_id": "SVIL_MOUSE",
            "refseq_ac": "NP_001334378",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Supervillin",
                    "type": "recommended"
                },
                {
                    "name": "Archvillin",
                    "type": "synonym"
                },
                {
                    "name": "archvillin",
                    "type": "synonym"
                },
                {
                    "name": "p205/p250",
                    "type": "synonym"
                },
                {
                    "name": "supervillin isoform b",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Svil",
                    "type": "recommended"
                },
                {
                    "name": "B430302E16Rik",
                    "type": "synonym"
                },
                {
                    "name": "Svil",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8K4L3-1",
            "evidence": [
                {
                    "id": "0112108",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112108"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O95425-1",
            "uniprot_ac": "O95425",
            "uniprot_id": "SVIL_HUMAN",
            "refseq_ac": "NP_003165",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Supervillin",
                    "type": "recommended"
                },
                {
                    "name": "Archvillin",
                    "type": "synonym"
                },
                {
                    "name": "archvillin",
                    "type": "synonym"
                },
                {
                    "name": "membrane-associated F-actin binding protein p205",
                    "type": "synonym"
                },
                {
                    "name": "p205/p250",
                    "type": "synonym"
                },
                {
                    "name": "supervillin isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SVIL",
                    "type": "recommended"
                },
                {
                    "name": "MFM10",
                    "type": "synonym"
                },
                {
                    "name": "SVIL",
                    "type": "synonym"
                }
            ],
            "record_id": "O95425-1",
            "evidence": [
                {
                    "id": "619040",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619040"
                },
                {
                    "id": "0112108",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112108"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6GFU3-1",
            "uniprot_ac": "A0A8I6GFU3",
            "uniprot_id": "A0A8I6GFU3_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Supervillin",
                    "type": "recommended"
                },
                {
                    "name": "Archvillin",
                    "type": "synonym"
                },
                {
                    "name": "p205/p250",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Svil",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A8I6GFU3-1",
            "evidence": [
                {
                    "id": "0112108",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112108"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "X2JAM4-1",
            "uniprot_ac": "X2JAM4",
            "uniprot_id": "X2JAM4_DROME",
            "refseq_ac": "NP_001286919",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG45186-PAE",
                    "type": "synonym"
                },
                {
                    "name": "Supervillin, isoform AE",
                    "type": "synonym"
                },
                {
                    "name": "Svil-PAE",
                    "type": "synonym"
                },
                {
                    "name": "supervillin, isoform AE",
                    "type": "synonym"
                },
                {
                    "name": "supervillin",
                    "type": "synonym"
                },
                {
                    "name": "villin-like",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Svil",
                    "type": "recommended"
                },
                {
                    "name": "CG1141",
                    "type": "synonym"
                },
                {
                    "name": "CG12790",
                    "type": "synonym"
                },
                {
                    "name": "CG13797",
                    "type": "synonym"
                },
                {
                    "name": "CG13798",
                    "type": "synonym"
                },
                {
                    "name": "CG13799",
                    "type": "synonym"
                },
                {
                    "name": "CG13800",
                    "type": "synonym"
                },
                {
                    "name": "CG16763",
                    "type": "synonym"
                },
                {
                    "name": "CG16764",
                    "type": "synonym"
                },
                {
                    "name": "CG32306",
                    "type": "synonym"
                },
                {
                    "name": "CG33231",
                    "type": "synonym"
                },
                {
                    "name": "CG33232",
                    "type": "synonym"
                },
                {
                    "name": "CG42669",
                    "type": "synonym"
                },
                {
                    "name": "CG45186",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG45186",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG45186",
                    "type": "synonym"
                },
                {
                    "name": "Svil",
                    "type": "synonym"
                },
                {
                    "name": "c62E-11",
                    "type": "synonym"
                }
            ],
            "record_id": "X2JAM4-1",
            "evidence": [
                {
                    "id": "0112108",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112108"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112108"
}