{
    "disease_id": "DOID:0112371",
    "recommended_name": {
        "id": "DOID:0112371",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0112371",
        "name": "Coffin-Siris syndrome 10",
        "description": "A Coffin-Siris syndrome characterized by mild to severe intellectual disability, global developmental delay, mild but distinct facial dysmorphism, fifth finger clinodactyly, and small stature that has_material_basis_in heterozygous mutation in the SOX4 gene on chromosome 6p22.3."
    },
    "synonyms": [
        {
            "id": "DOID:0112371",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112371",
            "name": "CSS10",
            "description": ""
        },
        {
            "id": "MONDO:0032791",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032791",
            "name": "Coffin-Siris syndrome 10",
            "description": ""
        },
        {
            "id": "MONDO:0032791",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032791",
            "name": "COFFIN-SIRIS SYNDROME 10",
            "description": ""
        },
        {
            "id": "MONDO:0032791",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032791",
            "name": "CSS10",
            "description": ""
        },
        {
            "id": "MIM:618506",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618506",
            "name": "Intellectual developmental disorder with speech delay and dysmorphic facies",
            "description": "Intellectual developmental disorder with speech delay and dysmorphic facies"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112371"
    ],
    "unlinked_id_list": []
}
