{
    "disease_id": "DOID:0111192",
    "recommended_name": {
        "id": "DOID:0111192",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111192",
        "name": "facioscapulohumeral muscular dystrophy 1",
        "description": "A facioscapulohumeral muscular dystrophy that has_material_basis_in contraction of the D4Z4 macrosatellite repeat in the subtelomeric region of chromosome 4q35."
    },
    "synonyms": [
        {
            "id": "DOID:0111192",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111192",
            "name": "FSHD1",
            "description": ""
        },
        {
            "id": "DOID:0111192",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111192",
            "name": "facioscapulohumeral muscular dystrophy type 1",
            "description": ""
        },
        {
            "id": "DOID:0111192",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111192",
            "name": "facioscapulohumeral muscular dystrophy type 1A",
            "description": ""
        },
        {
            "id": "MONDO:0008030",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008030",
            "name": "facioscapulohumeral muscular dystrophy 1",
            "description": "Any facioscapulohumeral muscular dystrophy associated with contraction of the D4Z4 macrosatellite repeat in the subtelomeric region of chromosome 4q35."
        },
        {
            "id": "MONDO:0008030",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008030",
            "name": "FSHD",
            "description": ""
        },
        {
            "id": "MONDO:0008030",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008030",
            "name": "FSHD1",
            "description": ""
        },
        {
            "id": "MONDO:0008030",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008030",
            "name": "FSHD1A",
            "description": ""
        },
        {
            "id": "MONDO:0008030",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008030",
            "name": "Landouzy-Dejerine muscular dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0008030",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008030",
            "name": "facioscapulohumeral muscular dystrophy 1",
            "description": ""
        },
        {
            "id": "MONDO:0008030",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008030",
            "name": "facioscapulohumeral muscular dystrophy 1A",
            "description": ""
        },
        {
            "id": "MONDO:0008030",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008030",
            "name": "facioscapulohumeral muscular dystrophy type 1",
            "description": ""
        },
        {
            "id": "MONDO:0008030",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008030",
            "name": "muscular dystrophy, facioscapulohumeral, type 1A",
            "description": ""
        },
        {
            "id": "MONDO:0008030",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008030",
            "name": "Landouzy-Dejerine muscular dystrophy facioscapulohumeral muscular dystrophy, infantile, included",
            "description": ""
        },
        {
            "id": "MONDO:0008030",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008030",
            "name": "facioscapulohumeral dystrophy with sensorineural hearing loss and tortuosity of retinal arterioles",
            "description": ""
        },
        {
            "id": "MONDO:0008030",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008030",
            "name": "facioscapulohumeral dystrophy with sensorineural hearing loss and tortuosity of retinal arterioles, included",
            "description": ""
        },
        {
            "id": "MONDO:0008030",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008030",
            "name": "facioscapulohumeral muscular dystrophy, infantile",
            "description": ""
        },
        {
            "id": "MONDO:0008030",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008030",
            "name": "muscular dystrophy, facioscapulohumeral, type 1",
            "description": ""
        },
        {
            "id": "MIM:158900",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/158900",
            "name": "Facioscapulohumeral muscular dystrophy 1",
            "description": "Facioscapulohumeral muscular dystrophy 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111192"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111192",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111192",
            "categories": []
        },
        {
            "id": "MONDO:0008030",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008030",
            "categories": []
        },
        {
            "id": "MIM:158900",
            "database": "MIM",
            "url": "https://www.omim.org/entry/158900",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q14331-1",
            "uniprot_ac": "Q14331",
            "uniprot_id": "FRG1_HUMAN",
            "refseq_ac": "NP_004468",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein FRG1",
                    "type": "recommended"
                },
                {
                    "name": "FSHD region gene 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "facioscapulohumeral muscular dystrophy region gene-1",
                    "type": "synonym"
                },
                {
                    "name": "protein FRG1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FRG1",
                    "type": "recommended"
                },
                {
                    "name": "FRG1A",
                    "type": "synonym"
                },
                {
                    "name": "FRG1",
                    "type": "synonym"
                },
                {
                    "name": "FSG1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q14331-1",
            "evidence": [
                {
                    "id": "158900",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/158900"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UBX2-1",
            "uniprot_ac": "Q9UBX2",
            "uniprot_id": "DUX4_HUMAN",
            "refseq_ac": "NP_001280727",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Double homeobox protein 4",
                    "type": "recommended"
                },
                {
                    "name": "Double homeobox protein 10",
                    "type": "synonym"
                },
                {
                    "name": "double homeobox protein 10",
                    "type": "synonym"
                },
                {
                    "name": "double homeobox protein 4 isoform DUX4-fl",
                    "type": "synonym"
                },
                {
                    "name": "double homeobox protein 4/10",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DUX4",
                    "type": "recommended"
                },
                {
                    "name": "DUX10",
                    "type": "synonym"
                },
                {
                    "name": "DUX4L",
                    "type": "synonym"
                },
                {
                    "name": "DUX4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UBX2-1",
            "evidence": [
                {
                    "id": "158900",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/158900"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111192"
}