{
    "disease_id": "DOID:0112367",
    "recommended_name": {
        "id": "DOID:0112367",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0112367",
        "name": "Coffin-Siris syndrome 8",
        "description": "A Coffin-Siris syndrome characterized by variable degrees of impaired intellectual development including speech impairment, hypotonia, feeding difficulties, and behavioral abnormalities and variable occurence of other dysmophic features that has_material_basis_in heterozygous mutation in the SMARCC2 gene on chromosome 12q13."
    },
    "synonyms": [
        {
            "id": "DOID:0112367",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112367",
            "name": "CSS8",
            "description": ""
        },
        {
            "id": "MONDO:0032702",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032702",
            "name": "Coffin-Siris syndrome 8",
            "description": "Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCC2 gene."
        },
        {
            "id": "MONDO:0032702",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032702",
            "name": "SMARCC2-related BAFopathy",
            "description": ""
        },
        {
            "id": "MONDO:0032702",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032702",
            "name": "COFFIN-SIRIS SYNDROME 8",
            "description": ""
        },
        {
            "id": "MONDO:0032702",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032702",
            "name": "CSS8",
            "description": ""
        },
        {
            "id": "MIM:618362",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618362",
            "name": "Coffin-Siris syndrome 8",
            "description": "Coffin-Siris syndrome 8"
        }
    ]
}