{
    "disease_id": "DOID:0112369",
    "recommended_name": {
        "id": "DOID:0112369",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0112369",
        "name": "Coffin-Siris syndrome 7",
        "description": "A Coffin-Siris syndrome characterized by global developmental delay with mild to moderate intellectual disability, speech impairment, behavioral abnormalities, poor overall growth, coarse facial features, and hypoplastic fifth toenails that has_material_basis_in heterozygous mutation in the DPF2 gene on chromosome 11q13.1."
    },
    "synonyms": [
        {
            "id": "DOID:0112369",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112369",
            "name": "CSS7",
            "description": ""
        },
        {
            "id": "MONDO:0054831",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054831",
            "name": "Coffin-Siris syndrome 7",
            "description": "Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the DPF2 gene."
        },
        {
            "id": "MONDO:0054831",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054831",
            "name": "COFFIN-SIRIS syndrome 7",
            "description": ""
        },
        {
            "id": "MONDO:0054831",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054831",
            "name": "CSS7",
            "description": ""
        },
        {
            "id": "MIM:618027",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618027",
            "name": "Coffin-Siris syndrome 7",
            "description": "Coffin-Siris syndrome 7"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112369"
    ],
    "unlinked_id_list": []
}