{
    "disease_id": "DOID:0111431",
    "recommended_name": {
        "id": "DOID:0111431",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111431",
        "name": "essential tremor 4",
        "description": "An essential tremor that has_material_basis_in heterozygous mutation in FUS on chromosome 16p11.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111431",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111431",
            "name": "ETM4",
            "description": ""
        },
        {
            "id": "DOID:0111431",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111431",
            "name": "hereditary essential tremor 4",
            "description": ""
        },
        {
            "id": "MONDO:0013888",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013888",
            "name": "tremor, hereditary essential, 4",
            "description": "Any essential tremor in which the cause of the disease is a mutation in the FUS gene."
        },
        {
            "id": "MONDO:0013888",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013888",
            "name": "FUS essential tremor",
            "description": ""
        },
        {
            "id": "MONDO:0013888",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013888",
            "name": "essential tremor caused by mutation in FUS",
            "description": ""
        },
        {
            "id": "MONDO:0013888",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013888",
            "name": "essential tremor, hereditary, 4",
            "description": ""
        },
        {
            "id": "MONDO:0013888",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013888",
            "name": "tremor, hereditary essential, 4",
            "description": ""
        },
        {
            "id": "MONDO:0013888",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013888",
            "name": "tremor, hereditary essential, type 4",
            "description": ""
        },
        {
            "id": "MONDO:0013888",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013888",
            "name": "ETM4",
            "description": ""
        },
        {
            "id": "MIM:614782",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614782",
            "name": "Tremor, hereditary essential 4",
            "description": "Tremor, hereditary essential 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111431"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111431",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111431",
            "categories": []
        },
        {
            "id": "MONDO:0013888",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013888",
            "categories": []
        },
        {
            "id": "MIM:614782",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614782",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1R0M4-1",
            "uniprot_ac": "F1R0M4",
            "uniprot_id": "F1R0M4_DANRE",
            "refseq_ac": "NP_957377",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "RNA-binding protein FUS",
                    "type": "recommended"
                },
                {
                    "name": "16) in malignant liposarcoma)",
                    "type": "synonym"
                },
                {
                    "name": "RNA-binding protein FUS",
                    "type": "synonym"
                },
                {
                    "name": "fusion (involved in t(12",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "fus",
                    "type": "recommended"
                },
                {
                    "name": "fus",
                    "type": "synonym"
                },
                {
                    "name": "zgc:56390",
                    "type": "synonym"
                }
            ],
            "record_id": "F1R0M4-1",
            "evidence": [
                {
                    "id": "0111431",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111431"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P56959-1",
            "uniprot_ac": "P56959",
            "uniprot_id": "FUS_MOUSE",
            "refseq_ac": "NP_631888",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "RNA-binding protein FUS",
                    "type": "recommended"
                },
                {
                    "name": "16) malignant liposarcoma",
                    "type": "synonym"
                },
                {
                    "name": "Protein pigpen",
                    "type": "synonym"
                },
                {
                    "name": "RNA-binding protein FUS isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "RNA-binding protein FUS",
                    "type": "synonym"
                },
                {
                    "name": "fusion, derived from t(12",
                    "type": "synonym"
                },
                {
                    "name": "hnRNP P2",
                    "type": "synonym"
                },
                {
                    "name": "pigpen protein",
                    "type": "synonym"
                },
                {
                    "name": "protein pigpen",
                    "type": "synonym"
                },
                {
                    "name": "translocated in liposarcoma",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fus",
                    "type": "recommended"
                },
                {
                    "name": "D430004D17Rik",
                    "type": "synonym"
                },
                {
                    "name": "D930039C12Rik",
                    "type": "synonym"
                },
                {
                    "name": "Fus1",
                    "type": "synonym"
                },
                {
                    "name": "Fus",
                    "type": "synonym"
                },
                {
                    "name": "Tls",
                    "type": "synonym"
                }
            ],
            "record_id": "P56959-1",
            "evidence": [
                {
                    "id": "0111431",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111431"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P35637-1",
            "uniprot_ac": "P35637",
            "uniprot_id": "FUS_HUMAN",
            "refseq_ac": "NP_001164105",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "RNA-binding protein FUS",
                    "type": "recommended"
                },
                {
                    "name": "75 kDa DNA-pairing protein",
                    "type": "synonym"
                },
                {
                    "name": "Oncogene FUS",
                    "type": "synonym"
                },
                {
                    "name": "Oncogene TLS",
                    "type": "synonym"
                },
                {
                    "name": "POMp75",
                    "type": "synonym"
                },
                {
                    "name": "RNA-binding protein FUS isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "RNA-binding protein FUS",
                    "type": "synonym"
                },
                {
                    "name": "Translocated in liposarcoma protein",
                    "type": "synonym"
                },
                {
                    "name": "fus-like protein",
                    "type": "synonym"
                },
                {
                    "name": "fused in sarcoma",
                    "type": "synonym"
                },
                {
                    "name": "fusion gene in myxoid liposarcoma",
                    "type": "synonym"
                },
                {
                    "name": "heterogeneous nuclear ribonucleoprotein P2",
                    "type": "synonym"
                },
                {
                    "name": "oncogene FUS",
                    "type": "synonym"
                },
                {
                    "name": "oncogene TLS",
                    "type": "synonym"
                },
                {
                    "name": "translocated in liposarcoma protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FUS",
                    "type": "recommended"
                },
                {
                    "name": "ALS6",
                    "type": "synonym"
                },
                {
                    "name": "ETM4",
                    "type": "synonym"
                },
                {
                    "name": "FUS1",
                    "type": "synonym"
                },
                {
                    "name": "FUS",
                    "type": "synonym"
                },
                {
                    "name": "HNRNPP2",
                    "type": "synonym"
                },
                {
                    "name": "POMP75",
                    "type": "synonym"
                },
                {
                    "name": "TLS",
                    "type": "synonym"
                },
                {
                    "name": "altFUS",
                    "type": "synonym"
                }
            ],
            "record_id": "P35637-1",
            "evidence": [
                {
                    "id": "614782",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614782"
                },
                {
                    "id": "0111431",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111431"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LB76-1",
            "uniprot_ac": "A0ABK0LB76",
            "uniprot_id": "A0ABK0LB76_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "RanBP2-type domain-containing protein",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Fusl1",
                    "type": "recommended"
                }
            ],
            "record_id": "A0ABK0LB76-1",
            "evidence": [
                {
                    "id": "0111431",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111431"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5PQK2-1",
            "uniprot_ac": "Q5PQK2",
            "uniprot_id": "Q5PQK2_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "RNA-binding protein FUS",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Fus",
                    "type": "recommended"
                }
            ],
            "record_id": "Q5PQK2-1",
            "evidence": [
                {
                    "id": "0111431",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111431"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q27294-1",
            "uniprot_ac": "Q27294",
            "uniprot_id": "CAZ_DROME",
            "refseq_ac": "NP_523365",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "RNA-binding protein cabeza",
                    "type": "recommended"
                },
                {
                    "name": "CG3606-PB",
                    "type": "synonym"
                },
                {
                    "name": "P19",
                    "type": "synonym"
                },
                {
                    "name": "Sarcoma-associated RNA-binding fly homolog",
                    "type": "synonym"
                },
                {
                    "name": "cabeza, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "cabeza",
                    "type": "synonym"
                },
                {
                    "name": "caz-PB",
                    "type": "synonym"
                },
                {
                    "name": "lethal (1) 5g11",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "caz",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:GM09207",
                    "type": "synonym"
                },
                {
                    "name": "CG3606",
                    "type": "synonym"
                },
                {
                    "name": "Cabeza",
                    "type": "synonym"
                },
                {
                    "name": "Caz",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3606",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG3606",
                    "type": "synonym"
                },
                {
                    "name": "EWSR1",
                    "type": "synonym"
                },
                {
                    "name": "P19",
                    "type": "synonym"
                },
                {
                    "name": "Pen19",
                    "type": "synonym"
                },
                {
                    "name": "SARFH",
                    "type": "synonym"
                },
                {
                    "name": "Sarfh",
                    "type": "synonym"
                },
                {
                    "name": "TFIID",
                    "type": "synonym"
                },
                {
                    "name": "anon-Pen19",
                    "type": "synonym"
                },
                {
                    "name": "cas",
                    "type": "synonym"
                },
                {
                    "name": "caz",
                    "type": "synonym"
                },
                {
                    "name": "dFUS",
                    "type": "synonym"
                },
                {
                    "name": "l(1)5g11",
                    "type": "synonym"
                },
                {
                    "name": "p19",
                    "type": "synonym"
                },
                {
                    "name": "pen19",
                    "type": "synonym"
                }
            ],
            "record_id": "Q27294-1",
            "evidence": [
                {
                    "id": "0111431",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111431"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111431"
}