{
    "disease_id": "DOID:0060997",
    "recommended_name": {
        "id": "DOID:0060997",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060997",
        "name": "rhabdoid tumor predisposition syndrome 2",
        "description": "A rhabdoid tumor predisposition syndrome that has_material_basis_in heterozygous germline mutation in the SMARCA4 gene on chromosome 19p13."
    },
    "synonyms": [
        {
            "id": "DOID:0060997",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060997",
            "name": "RTPS2",
            "description": ""
        },
        {
            "id": "MONDO:0013224",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013224",
            "name": "rhabdoid tumor predisposition syndrome 2",
            "description": "Any familial rhabdoid tumor in which the cause of the disease is a mutation in the SMARCA4 gene."
        },
        {
            "id": "MONDO:0013224",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013224",
            "name": "SMARCA4 familial rhabdoid tumor",
            "description": ""
        },
        {
            "id": "MONDO:0013224",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013224",
            "name": "SMARCA4 familial rhabdoid tumour",
            "description": ""
        },
        {
            "id": "MONDO:0013224",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013224",
            "name": "familial rhabdoid tumor caused by mutation in SMARCA4",
            "description": ""
        },
        {
            "id": "MONDO:0013224",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013224",
            "name": "familial rhabdoid tumour caused by mutation in SMARCA4",
            "description": ""
        },
        {
            "id": "MONDO:0013224",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013224",
            "name": "rhabdoid tumor predisposition syndrome 2",
            "description": ""
        },
        {
            "id": "MONDO:0013224",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013224",
            "name": "rhabdoid tumor predisposition syndrome type 2",
            "description": ""
        },
        {
            "id": "MONDO:0013224",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013224",
            "name": "rhabdoid tumour predisposition syndrome type 2",
            "description": ""
        },
        {
            "id": "MONDO:0013224",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013224",
            "name": "RTPS2",
            "description": ""
        },
        {
            "id": "MIM:613325",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613325",
            "name": "Rhabdoid tumor predisposition syndrome 2",
            "description": "Rhabdoid tumor predisposition syndrome 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060997"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060997",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060997",
            "categories": []
        },
        {
            "id": "MONDO:0013224",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013224",
            "categories": []
        },
        {
            "id": "MIM:613325",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613325",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q3TKT4-1",
            "uniprot_ac": "Q3TKT4",
            "uniprot_id": "SMCA4_MOUSE",
            "refseq_ac": "NP_001167549",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 4",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.-",
                    "type": "synonym"
                },
                {
                    "name": "ATP-dependent helicase SMARCA4",
                    "type": "synonym"
                },
                {
                    "name": "BAF190A",
                    "type": "synonym"
                },
                {
                    "name": "BRG1-associated factor 190A",
                    "type": "synonym"
                },
                {
                    "name": "Protein brahma homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "SMARCA4",
                    "type": "synonym"
                },
                {
                    "name": "SNF2-beta",
                    "type": "synonym"
                },
                {
                    "name": "SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 4 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 4",
                    "type": "synonym"
                },
                {
                    "name": "Transcription activator BRG1",
                    "type": "synonym"
                },
                {
                    "name": "protein brahma homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "transcription activator BRG1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Smarca4",
                    "type": "recommended"
                },
                {
                    "name": "BAF190A",
                    "type": "synonym"
                },
                {
                    "name": "Baf190a",
                    "type": "synonym"
                },
                {
                    "name": "Brg1",
                    "type": "synonym"
                },
                {
                    "name": "HP1-BP72",
                    "type": "synonym"
                },
                {
                    "name": "SNF2beta",
                    "type": "synonym"
                },
                {
                    "name": "SW1/SNF",
                    "type": "synonym"
                },
                {
                    "name": "Smarca4",
                    "type": "synonym"
                },
                {
                    "name": "Snf2b",
                    "type": "synonym"
                },
                {
                    "name": "Snf2l4",
                    "type": "synonym"
                },
                {
                    "name": "b2b508.1Clo",
                    "type": "synonym"
                },
                {
                    "name": "b2b692Clo",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3TKT4-1",
            "evidence": [
                {
                    "id": "0060997",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060997"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P51532-1",
            "uniprot_ac": "P51532",
            "uniprot_id": "SMCA4_HUMAN",
            "refseq_ac": "NP_001122316",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 4",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.-",
                    "type": "synonym"
                },
                {
                    "name": "ATP-dependent helicase SMARCA4",
                    "type": "synonym"
                },
                {
                    "name": "BAF190A",
                    "type": "synonym"
                },
                {
                    "name": "BRG1-associated factor 190A",
                    "type": "synonym"
                },
                {
                    "name": "BRM/SWI2-related gene 1",
                    "type": "synonym"
                },
                {
                    "name": "Mitotic growth and transcription activator",
                    "type": "synonym"
                },
                {
                    "name": "Protein BRG-1",
                    "type": "synonym"
                },
                {
                    "name": "Protein brahma homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "SMARCA4",
                    "type": "synonym"
                },
                {
                    "name": "SNF2-beta",
                    "type": "synonym"
                },
                {
                    "name": "SNF2-like 4",
                    "type": "synonym"
                },
                {
                    "name": "SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4",
                    "type": "synonym"
                },
                {
                    "name": "SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 4 isoform B",
                    "type": "synonym"
                },
                {
                    "name": "Transcription activator BRG1",
                    "type": "synonym"
                },
                {
                    "name": "brahma protein-like 1",
                    "type": "synonym"
                },
                {
                    "name": "global transcription activator homologous sequence",
                    "type": "synonym"
                },
                {
                    "name": "homeotic gene regulator",
                    "type": "synonym"
                },
                {
                    "name": "mitotic growth and transcription activator",
                    "type": "synonym"
                },
                {
                    "name": "nuclear protein GRB1",
                    "type": "synonym"
                },
                {
                    "name": "protein BRG-1",
                    "type": "synonym"
                },
                {
                    "name": "protein brahma homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "sucrose nonfermenting-like 4",
                    "type": "synonym"
                },
                {
                    "name": "transcription activator BRG1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SMARCA4",
                    "type": "recommended"
                },
                {
                    "name": "BAF190A",
                    "type": "synonym"
                },
                {
                    "name": "BAF190",
                    "type": "synonym"
                },
                {
                    "name": "BRG1",
                    "type": "synonym"
                },
                {
                    "name": "CSS4",
                    "type": "synonym"
                },
                {
                    "name": "MRD16",
                    "type": "synonym"
                },
                {
                    "name": "OTSC12",
                    "type": "synonym"
                },
                {
                    "name": "RTPS2",
                    "type": "synonym"
                },
                {
                    "name": "SMARCA4",
                    "type": "synonym"
                },
                {
                    "name": "SNF2-beta",
                    "type": "synonym"
                },
                {
                    "name": "SNF2B",
                    "type": "synonym"
                },
                {
                    "name": "SNF2L4",
                    "type": "synonym"
                },
                {
                    "name": "SNF2LB",
                    "type": "synonym"
                },
                {
                    "name": "SNF2",
                    "type": "synonym"
                },
                {
                    "name": "SWI2",
                    "type": "synonym"
                },
                {
                    "name": "hSNF2b",
                    "type": "synonym"
                }
            ],
            "record_id": "P51532-1",
            "evidence": [
                {
                    "id": "613325",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613325"
                },
                {
                    "id": "0060997",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060997"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P22082-1",
            "uniprot_ac": "P22082",
            "uniprot_id": "SNF2_YEAST",
            "refseq_ac": "NP_014933",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "SWI/SNF chromatin-remodeling complex subunit SNF2",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.-",
                    "type": "synonym"
                },
                {
                    "name": "ATP-dependent chromatin remodeler SNF2",
                    "type": "synonym"
                },
                {
                    "name": "Regulatory protein GAM1",
                    "type": "synonym"
                },
                {
                    "name": "Regulatory protein SWI2",
                    "type": "synonym"
                },
                {
                    "name": "SWI/SNF catalytic subunit SNF2",
                    "type": "synonym"
                },
                {
                    "name": "SWI/SNF complex component SNF2",
                    "type": "synonym"
                },
                {
                    "name": "Transcription factor TYE3",
                    "type": "synonym"
                },
                {
                    "name": "Transcription regulatory protein SNF2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SNF2",
                    "type": "recommended"
                },
                {
                    "name": "GAM1",
                    "type": "synonym"
                },
                {
                    "name": "HAF1",
                    "type": "synonym"
                },
                {
                    "name": "RIC1",
                    "type": "synonym"
                },
                {
                    "name": "SNF2",
                    "type": "synonym"
                },
                {
                    "name": "SWI2",
                    "type": "synonym"
                },
                {
                    "name": "TYE3",
                    "type": "synonym"
                }
            ],
            "record_id": "P22082-1",
            "evidence": [
                {
                    "id": "0060997",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060997"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P32597-1",
            "uniprot_ac": "P32597",
            "uniprot_id": "STH1_YEAST",
            "refseq_ac": "NP_012140",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nuclear protein STH1/NPS1",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.12",
                    "type": "synonym"
                },
                {
                    "name": "ATP-dependent helicase STH1",
                    "type": "synonym"
                },
                {
                    "name": "Chromatin structure-remodeling complex protein STH1",
                    "type": "synonym"
                },
                {
                    "name": "RSC chromatin remodeling complex ATPase subunit STH1",
                    "type": "synonym"
                },
                {
                    "name": "SNF2 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "STH1",
                    "type": "recommended"
                },
                {
                    "name": "NPS1",
                    "type": "synonym"
                },
                {
                    "name": "STH1",
                    "type": "synonym"
                }
            ],
            "record_id": "P32597-1",
            "evidence": [
                {
                    "id": "0060997",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060997"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8K1P7-1",
            "uniprot_ac": "Q8K1P7",
            "uniprot_id": "SMCA4_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": "SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 4",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.-",
                    "type": "synonym"
                },
                {
                    "name": "BAF190A",
                    "type": "synonym"
                },
                {
                    "name": "BRG1-associated factor 190A",
                    "type": "synonym"
                },
                {
                    "name": "Protein brahma homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "SMARCA4",
                    "type": "synonym"
                },
                {
                    "name": "SNF2-beta",
                    "type": "synonym"
                },
                {
                    "name": "Transcription activator BRG1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Smarca4",
                    "type": "recommended"
                },
                {
                    "name": "Baf190a",
                    "type": "synonym"
                },
                {
                    "name": "Brg1",
                    "type": "synonym"
                },
                {
                    "name": "Snf2b",
                    "type": "synonym"
                },
                {
                    "name": "Snf2l4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8K1P7-1",
            "evidence": [
                {
                    "id": "0060997",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060997"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P25439-1",
            "uniprot_ac": "P25439",
            "uniprot_id": "BRM_DROME",
            "refseq_ac": "NP_536745",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Brahma chromatin-remodeling complex ATPase subunit",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.-",
                    "type": "synonym"
                },
                {
                    "name": "CG5942-PC",
                    "type": "synonym"
                },
                {
                    "name": "Homeotic gene regulator",
                    "type": "synonym"
                },
                {
                    "name": "Protein brahma",
                    "type": "synonym"
                },
                {
                    "name": "brahma, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "brahma",
                    "type": "synonym"
                },
                {
                    "name": "brm-PC",
                    "type": "synonym"
                },
                {
                    "name": "complementation group 3.5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "brm",
                    "type": "recommended"
                },
                {
                    "name": "BRD",
                    "type": "synonym"
                },
                {
                    "name": "BRM",
                    "type": "synonym"
                },
                {
                    "name": "Brahma",
                    "type": "synonym"
                },
                {
                    "name": "Brg",
                    "type": "synonym"
                },
                {
                    "name": "Brm @ Kto",
                    "type": "synonym"
                },
                {
                    "name": "Brm",
                    "type": "synonym"
                },
                {
                    "name": "CG18438",
                    "type": "synonym"
                },
                {
                    "name": "CG5942",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5942",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG5942",
                    "type": "synonym"
                },
                {
                    "name": "E(E2F)3A",
                    "type": "synonym"
                },
                {
                    "name": "brm",
                    "type": "synonym"
                },
                {
                    "name": "dBRM",
                    "type": "synonym"
                },
                {
                    "name": "dSMARCA4",
                    "type": "synonym"
                },
                {
                    "name": "dSNF2",
                    "type": "synonym"
                },
                {
                    "name": "l(3)72Aa",
                    "type": "synonym"
                }
            ],
            "record_id": "P25439-1",
            "evidence": [
                {
                    "id": "0060997",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060997"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060997"
}