{
    "disease_id": "DOID:0080509",
    "recommended_name": {
        "id": "DOID:0080509",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080509",
        "name": "Cornelia de Lange syndrome 5",
        "description": "A Cornelia de Lange syndrome that has_material_basis_in by mutation in the HDAC8 gene on chromosome Xq13."
    },
    "synonyms": [
        {
            "id": "MONDO:0010471",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010471",
            "name": "Cornelia de Lange syndrome 5",
            "description": ""
        },
        {
            "id": "MONDO:0010471",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010471",
            "name": "Cornelia De Lange syndrome type 5",
            "description": ""
        },
        {
            "id": "MONDO:0010471",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010471",
            "name": "Cornelia de Lange syndrome 5",
            "description": ""
        },
        {
            "id": "MONDO:0010471",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010471",
            "name": "Cornelia de Lange syndrome 5, X-linked dominant",
            "description": ""
        },
        {
            "id": "MONDO:0010471",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010471",
            "name": "CDLS5",
            "description": ""
        },
        {
            "id": "MIM:300882",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300882",
            "name": "Cornelia de Lange syndrome 5",
            "description": "Cornelia de Lange syndrome 5"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080509"
    ],
    "unlinked_id_list": []
}