{
    "disease_id": "DOID:0112368",
    "recommended_name": {
        "id": "DOID:0112368",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0112368",
        "name": "Coffin-Siris syndrome 5",
        "description": "A Coffin-Siris syndrome characterized by delayed psychomotor development, intellectual disability, coarse facial features, and hypoplasia of the distal phalanges, particularly the fifth digit that has_material_basis_in heterozygous mutation in the SMARCE1 gene on chromosome 17q21.2."
    },
    "synonyms": [
        {
            "id": "DOID:0112368",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112368",
            "name": "CSS5",
            "description": ""
        },
        {
            "id": "MONDO:0014838",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014838",
            "name": "Coffin-Siris syndrome 5",
            "description": "Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCE1 gene."
        },
        {
            "id": "MONDO:0014838",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014838",
            "name": "Coffin-Siris syndrome 5",
            "description": ""
        },
        {
            "id": "MONDO:0014838",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014838",
            "name": "Coffin-Siris syndrome caused by mutation in SMARCE1",
            "description": ""
        },
        {
            "id": "MONDO:0014838",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014838",
            "name": "Coffin-Siris syndrome type 5",
            "description": ""
        },
        {
            "id": "MONDO:0014838",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014838",
            "name": "SMARCE1 Coffin-Siris syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014838",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014838",
            "name": "COFFIN-SIRIS syndrome 5",
            "description": ""
        },
        {
            "id": "MONDO:0014838",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014838",
            "name": "CSS5",
            "description": ""
        },
        {
            "id": "MIM:616938",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616938",
            "name": "Coffin-Siris syndrome 5",
            "description": "Coffin-Siris syndrome 5"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112368"
    ],
    "unlinked_id_list": []
}