{
    "disease_id": "DOID:0070046",
    "recommended_name": {
        "id": "DOID:0070046",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0070046",
        "name": "Coffin-Siris syndrome 4",
        "description": "A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of SMARCA4 on chromosome 19p13.2."
    },
    "synonyms": [
        {
            "id": "DOID:0070046",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070046",
            "name": "CSS4",
            "description": ""
        },
        {
            "id": "DOID:0070046",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070046",
            "name": "MRD16",
            "description": ""
        },
        {
            "id": "DOID:0070046",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070046",
            "name": "autosomal dominant mental retardation 16",
            "description": ""
        },
        {
            "id": "MONDO:0013821",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013821",
            "name": "intellectual disability, autosomal dominant 16",
            "description": "Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCA4 gene."
        },
        {
            "id": "MONDO:0013821",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013821",
            "name": "mental retardation, autosomal dominant 16; MRD16",
            "description": ""
        },
        {
            "id": "MONDO:0013821",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013821",
            "name": "mental retardation, autosomal dominant 16",
            "description": ""
        },
        {
            "id": "MONDO:0013821",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013821",
            "name": "MRD16",
            "description": ""
        },
        {
            "id": "MONDO:0013821",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013821",
            "name": "Coffin-Siris syndrome caused by mutation in SMARCA4",
            "description": ""
        },
        {
            "id": "MONDO:0013821",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013821",
            "name": "autosomal dominant mental retardation 16",
            "description": ""
        },
        {
            "id": "MONDO:0013821",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013821",
            "name": "mental retardation, autosomal dominant type 16",
            "description": ""
        },
        {
            "id": "MONDO:0013821",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013821",
            "name": "CSS4",
            "description": ""
        },
        {
            "id": "MONDO:0013821",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013821",
            "name": "COFFIN-SIRIS syndrome 4; CSS4",
            "description": ""
        },
        {
            "id": "MONDO:0013821",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013821",
            "name": "COFFIN-SIRIS syndrome 4",
            "description": ""
        },
        {
            "id": "MONDO:0013821",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013821",
            "name": "SMARCA4 Coffin-Siris syndrome",
            "description": ""
        },
        {
            "id": "MIM:614609",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614609",
            "name": "Coffin-Siris syndrome 4",
            "description": "Coffin-Siris syndrome 4"
        }
    ]
}