{
    "disease_id": "DOID:0070045",
    "recommended_name": {
        "id": "DOID:0070045",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070045",
        "name": "Coffin-Siris syndrome 3",
        "description": "A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the SMARCB1 gene on chromosome 22q11.23."
    },
    "synonyms": [
        {
            "id": "DOID:0070045",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070045",
            "name": "CSS3",
            "description": ""
        },
        {
            "id": "DOID:0070045",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070045",
            "name": "MRD15",
            "description": ""
        },
        {
            "id": "DOID:0070045",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070045",
            "name": "autosomal dominant mental retardation 15",
            "description": ""
        },
        {
            "id": "MONDO:0013820",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013820",
            "name": "intellectual disability, autosomal dominant 15",
            "description": "Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCB1 gene."
        },
        {
            "id": "MONDO:0013820",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013820",
            "name": "COFFIN-SIRIS syndrome 3",
            "description": ""
        },
        {
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            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013820",
            "name": "CSS3",
            "description": ""
        },
        {
            "id": "MONDO:0013820",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013820",
            "name": "Coffin-Siris syndrome caused by mutation in SMARCB1",
            "description": ""
        },
        {
            "id": "MONDO:0013820",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013820",
            "name": "MRD15",
            "description": ""
        },
        {
            "id": "MONDO:0013820",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013820",
            "name": "SMARCB1 Coffin-Siris syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013820",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013820",
            "name": "SMARCB1-related BAFopathy",
            "description": ""
        },
        {
            "id": "MONDO:0013820",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013820",
            "name": "autosomal dominant intellectual disability 15",
            "description": ""
        },
        {
            "id": "MONDO:0013820",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013820",
            "name": "intellectual disability, autosomal dominant 15",
            "description": ""
        },
        {
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            "resource": "MONDO",
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            "description": ""
        },
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            "description": ""
        },
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            "name": "mental retardation, autosomal dominant 15",
            "description": ""
        },
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            "url": "https://www.omim.org/entry/614608",
            "name": "Coffin-Siris syndrome 3",
            "description": "Coffin-Siris syndrome 3"
        }
    ],
    "children": [],
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    ],
    "unlinked_id_list": [],
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        {
            "id": "DOID:0070045",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070045",
            "categories": []
        },
        {
            "id": "MONDO:0013820",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013820",
            "categories": []
        },
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            "id": "MIM:614608",
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            "url": "https://www.omim.org/entry/614608",
            "categories": []
        }
    ],
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            "uniprot_ac": "Q5U379",
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                    "glygen_name": "Zebrafish",
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                }
            ],
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                },
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                },
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                }
            ],
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                {
                    "name": "smarcb1a",
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                },
                {
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                    "name": "zgc:92517",
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                }
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                }
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            ],
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                    "name": "hSNF5",
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                    "type": "synonym"
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                {
                    "name": "malignant rhabdoid tumor suppressor",
                    "type": "synonym"
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                {
                    "name": "protein phosphatase 1, regulatory subunit 144",
                    "type": "synonym"
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                {
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    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070045"
}