{
    "disease_id": "DOID:0060917",
    "recommended_name": {
        "id": "DOID:0060917",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060917",
        "name": "facioscapulohumeral muscular dystrophy 3",
        "description": "A facioscapulohumeral muscular dystrophy characterized by adult onset of proximal muscle weakness affecting the face, neck, scapular muscles, and upper and lower limbs that has_material_basis_in the combination of a homozygous mutation in the LRIF1 gene on chromosome 1p13 and presence of a haplotype on chromosome 4 that is permissive for DUX4 expression."
    },
    "synonyms": [
        {
            "id": "DOID:0060917",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060917",
            "name": "FSHD3",
            "description": ""
        },
        {
            "id": "DOID:0060917",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060917",
            "name": "facioscapulohumeral muscular dystrophy type 3",
            "description": ""
        },
        {
            "id": "MONDO:0030354",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030354",
            "name": "facioscapulohumeral muscular dystrophy 3, digenic",
            "description": ""
        },
        {
            "id": "MONDO:0030354",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030354",
            "name": "FSHD3",
            "description": ""
        },
        {
            "id": "MONDO:0030354",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030354",
            "name": "facioscapulohumeral muscular dystrophy 3, digenic",
            "description": ""
        },
        {
            "id": "MIM:619477",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619477",
            "name": "Facioscapulohumeral muscular dystrophy 3, digenic",
            "description": "Facioscapulohumeral muscular dystrophy 3, digenic"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060917"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060917",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060917",
            "categories": []
        },
        {
            "id": "MONDO:0030354",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030354",
            "categories": []
        },
        {
            "id": "MIM:619477",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619477",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E7F853-1",
            "uniprot_ac": "E7F853",
            "uniprot_id": "E7F853_DANRE",
            "refseq_ac": "XP_689382",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ligand-dependent nuclear receptor-interacting factor 1 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "ligand-dependent nuclear receptor-interacting factor 1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "lrif1",
                    "type": "recommended"
                },
                {
                    "name": "lrif1",
                    "type": "synonym"
                }
            ],
            "record_id": "E7F853-1",
            "evidence": [
                {
                    "id": "0060917",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060917"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8CDD9-1",
            "uniprot_ac": "Q8CDD9",
            "uniprot_id": "LRIF1_MOUSE",
            "refseq_ac": "NP_001034577",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ligand-dependent nuclear receptor-interacting factor 1",
                    "type": "recommended"
                },
                {
                    "name": "ligand-dependent nuclear receptor-interacting factor 1 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lrif1",
                    "type": "recommended"
                },
                {
                    "name": "2010012G17Rik",
                    "type": "synonym"
                },
                {
                    "name": "4933421E11Rik",
                    "type": "synonym"
                },
                {
                    "name": "Lrif1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8CDD9-1",
            "evidence": [
                {
                    "id": "0060917",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060917"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5T3J3-1",
            "uniprot_ac": "Q5T3J3",
            "uniprot_id": "LRIF1_HUMAN",
            "refseq_ac": "NP_001006946",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ligand-dependent nuclear receptor-interacting factor 1",
                    "type": "recommended"
                },
                {
                    "name": "HBiX1",
                    "type": "synonym"
                },
                {
                    "name": "HP1-binding protein enriched in inactive X chromosome protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Receptor-interacting factor 1",
                    "type": "synonym"
                },
                {
                    "name": "ligand-dependent nuclear receptor-interacting factor 1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "receptor-interacting factor 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LRIF1",
                    "type": "recommended"
                },
                {
                    "name": "C1orf103",
                    "type": "synonym"
                },
                {
                    "name": "FSHD3",
                    "type": "synonym"
                },
                {
                    "name": "HBiX1",
                    "type": "synonym"
                },
                {
                    "name": "LRIF1",
                    "type": "synonym"
                },
                {
                    "name": "RIF1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5T3J3-1",
            "evidence": [
                {
                    "id": "619477",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619477"
                },
                {
                    "id": "0060917",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060917"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q499M7-1",
            "uniprot_ac": "Q499M7",
            "uniprot_id": "LRIF1_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": "Ligand-dependent nuclear receptor-interacting factor 1",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Lrif1",
                    "type": "recommended"
                }
            ],
            "record_id": "Q499M7-1",
            "evidence": [
                {
                    "id": "0060917",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060917"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060917"
}