{
    "disease_id": "DOID:0111193",
    "recommended_name": {
        "id": "DOID:0111193",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111193",
        "name": "facioscapulohumeral muscular dystrophy 2",
        "description": "A facioscapulohumeral muscular dystrophy that has_material_basis_in digenic inheritance of a heterozygous mutation in the SMCHDI gene on 18p11.32 and a haplotype on chromosome 4 that is permissive for DUX4 expression."
    },
    "synonyms": [
        {
            "id": "DOID:0111193",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111193",
            "name": "FSHD2",
            "description": ""
        },
        {
            "id": "DOID:0111193",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111193",
            "name": "facioscapulohumeral muscular dystrophy 1B",
            "description": ""
        },
        {
            "id": "DOID:0111193",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111193",
            "name": "facioscapulohumeral muscular dystrophy type 2",
            "description": ""
        },
        {
            "id": "MONDO:0008031",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008031",
            "name": "facioscapulohumeral muscular dystrophy 2",
            "description": "Any facioscapulohumeral muscular dystrophy in which the cause of the disease is a mutation in the SMCHD1 gene."
        },
        {
            "id": "MONDO:0008031",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008031",
            "name": "SMCHD1 facioscapulohumeral muscular dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0008031",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008031",
            "name": "facioscapulohumeral muscular dystrophy 2",
            "description": ""
        },
        {
            "id": "MONDO:0008031",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008031",
            "name": "facioscapulohumeral muscular dystrophy caused by mutation in SMCHD1",
            "description": ""
        },
        {
            "id": "MONDO:0008031",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008031",
            "name": "facioscapulohumeral muscular dystrophy type 2",
            "description": ""
        },
        {
            "id": "MONDO:0008031",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008031",
            "name": "fascioscapulohumeral muscular dystrophy 2, digenic, digenic dominant",
            "description": ""
        },
        {
            "id": "MONDO:0008031",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008031",
            "name": "FSHD2",
            "description": ""
        },
        {
            "id": "MIM:158901",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/158901",
            "name": "Facioscapulohumeral muscular dystrophy 2, digenic",
            "description": "Facioscapulohumeral muscular dystrophy 2, digenic"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111193"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111193",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111193",
            "categories": []
        },
        {
            "id": "MONDO:0008031",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008031",
            "categories": []
        },
        {
            "id": "MIM:158901",
            "database": "MIM",
            "url": "https://www.omim.org/entry/158901",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M3AUP8-1",
            "uniprot_ac": "A0A8M3AUP8",
            "uniprot_id": "A0A8M3AUP8_DANRE",
            "refseq_ac": "XP_009301910",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Structural maintenance of chromosomes flexible hinge domain-containing protein 1 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "structural maintenance of chromosomes flexible hinge domain-containing protein 1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "smchd1",
                    "type": "recommended"
                },
                {
                    "name": "smchd1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M3AUP8-1",
            "evidence": [
                {
                    "id": "0111193",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111193"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6P5D8-1",
            "uniprot_ac": "Q6P5D8",
            "uniprot_id": "SMHD1_MOUSE",
            "refseq_ac": "NP_083163",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Structural maintenance of chromosomes flexible hinge domain-containing protein 1",
                    "type": "recommended"
                },
                {
                    "name": "3.6.1.-",
                    "type": "synonym"
                },
                {
                    "name": "SMC hinge domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "structural maintenance of chromosomes flexible hinge domain-containing protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Smchd1",
                    "type": "recommended"
                },
                {
                    "name": "4931400A14Rik",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa0650",
                    "type": "synonym"
                },
                {
                    "name": "MommeD1",
                    "type": "synonym"
                },
                {
                    "name": "Smchd1",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA0650",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6P5D8-1",
            "evidence": [
                {
                    "id": "0111193",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111193"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A6NHR9-1",
            "uniprot_ac": "A6NHR9",
            "uniprot_id": "SMHD1_HUMAN",
            "refseq_ac": "NP_056110",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Structural maintenance of chromosomes flexible hinge domain-containing protein 1",
                    "type": "recommended"
                },
                {
                    "name": "3.6.1.-",
                    "type": "synonym"
                },
                {
                    "name": "SMC hinge domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "structural maintenance of chromosomes flexible hinge domain-containing protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SMCHD1",
                    "type": "recommended"
                },
                {
                    "name": "BAMS",
                    "type": "synonym"
                },
                {
                    "name": "FSHD2",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0650",
                    "type": "synonym"
                },
                {
                    "name": "SMCHD1",
                    "type": "synonym"
                }
            ],
            "record_id": "A6NHR9-1",
            "evidence": [
                {
                    "id": "158901",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/158901"
                },
                {
                    "id": "0111193",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111193"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6GAU4-1",
            "uniprot_ac": "A0A8I6GAU4",
            "uniprot_id": "A0A8I6GAU4_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": "Structural maintenance of chromosomes flexible hinge domain-containing protein 1",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Smchd1",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A8I6GAU4-1",
            "evidence": [
                {
                    "id": "0111193",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111193"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111193"
}