{
    "disease_id": "DOID:0070617",
    "recommended_name": {
        "id": "DOID:0070617",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070617",
        "name": "rhabdoid tumor predisposition syndrome",
        "description": "A syndrome characterized by a markedly increased risk for the development of rhabdoid tumors, rare and highly aggressive malignant tumors occurring in almost any anatomical location predominantly in infants and young children."
    },
    "synonyms": [
        {
            "id": "DOID:0070617",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070617",
            "name": "familial posterior fossa brain tumor syndrome of infancy",
            "description": ""
        },
        {
            "id": "DOID:0070617",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070617",
            "name": "RTPS",
            "description": ""
        },
        {
            "id": "DOID:0070617",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070617",
            "name": "rhabdoid predisposition syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012252",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012252",
            "name": "rhabdoid tumor predisposition syndrome 1",
            "description": "Any familial rhabdoid tumor in which the cause of the disease is a mutation in the SMARCB1 gene."
        },
        {
            "id": "MONDO:0012252",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012252",
            "name": "SMARCB1 familial rhabdoid tumor",
            "description": ""
        },
        {
            "id": "MONDO:0012252",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012252",
            "name": "SMARCB1 familial rhabdoid tumour",
            "description": ""
        },
        {
            "id": "MONDO:0012252",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012252",
            "name": "familial rhabdoid tumor caused by mutation in SMARCB1",
            "description": ""
        },
        {
            "id": "MONDO:0012252",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012252",
            "name": "familial rhabdoid tumour caused by mutation in SMARCB1",
            "description": ""
        },
        {
            "id": "MONDO:0012252",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012252",
            "name": "rhabdoid tumor predisposition syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0012252",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012252",
            "name": "rhabdoid tumor predisposition syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0012252",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012252",
            "name": "rhabdoid tumors, somatic",
            "description": ""
        },
        {
            "id": "MONDO:0012252",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012252",
            "name": "rhabdoid tumour predisposition syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0012252",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012252",
            "name": "RTPS1",
            "description": ""
        },
        {
            "id": "MIM:609322",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/609322",
            "name": "Rhabdoid tumor predisposition syndrome 1",
            "description": "Rhabdoid tumor predisposition syndrome 1"
        }
    ],
    "children": [
        {
            "id": "DOID:0060997",
            "label": "rhabdoid tumor predisposition syndrome 2",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070618",
            "label": "rhabdoid tumor predisposition syndrome 1",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0070617",
        "DOID:0070618",
        "DOID:0060997"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070617",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070617",
            "categories": []
        },
        {
            "id": "MONDO:0012252",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012252",
            "categories": []
        },
        {
            "id": "MIM:609322",
            "database": "MIM",
            "url": "https://www.omim.org/entry/609322",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q12824-1",
            "uniprot_ac": "Q12824",
            "uniprot_id": "SNF5_HUMAN",
            "refseq_ac": "NP_001007469",
            "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 B member 1",
                    "type": "recommended"
                },
                {
                    "name": "BAF47",
                    "type": "synonym"
                },
                {
                    "name": "BRG1-associated factor 47",
                    "type": "synonym"
                },
                {
                    "name": "Integrase interactor 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "SNF5 homolog",
                    "type": "synonym"
                },
                {
                    "name": "SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1",
                    "type": "synonym"
                },
                {
                    "name": "SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1",
                    "type": "synonym"
                },
                {
                    "name": "SWI/SNF-related matrix-associated protein",
                    "type": "synonym"
                },
                {
                    "name": "hSNF5",
                    "type": "synonym"
                },
                {
                    "name": "integrase interactor 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "malignant rhabdoid tumor suppressor",
                    "type": "synonym"
                },
                {
                    "name": "protein phosphatase 1, regulatory subunit 144",
                    "type": "synonym"
                },
                {
                    "name": "sucrose nonfermenting, yeast, homolog-like 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SMARCB1",
                    "type": "recommended"
                },
                {
                    "name": "BAF47",
                    "type": "synonym"
                },
                {
                    "name": "CSS3",
                    "type": "synonym"
                },
                {
                    "name": "INI-1",
                    "type": "synonym"
                },
                {
                    "name": "INI1",
                    "type": "synonym"
                },
                {
                    "name": "MRD15",
                    "type": "synonym"
                },
                {
                    "name": "PPP1R144",
                    "type": "synonym"
                },
                {
                    "name": "RDT",
                    "type": "synonym"
                },
                {
                    "name": "RTPS1",
                    "type": "synonym"
                },
                {
                    "name": "SMARCB1",
                    "type": "synonym"
                },
                {
                    "name": "SNF5L1",
                    "type": "synonym"
                },
                {
                    "name": "SNF5",
                    "type": "synonym"
                },
                {
                    "name": "SWNTS1",
                    "type": "synonym"
                },
                {
                    "name": "Sfh1p",
                    "type": "synonym"
                },
                {
                    "name": "Snr1",
                    "type": "synonym"
                },
                {
                    "name": "hSNFS",
                    "type": "synonym"
                }
            ],
            "record_id": "Q12824-1",
            "evidence": [
                {
                    "id": "609322",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/609322"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070617"
}