{
    "disease_id": "DOID:0080506",
    "recommended_name": {
        "id": "DOID:0080506",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080506",
        "name": "Cornelia de Lange syndrome 2",
        "description": "A Cornelia de Lange syndrome that has_material_basis_in a mutation in the SMC1A gene, which encodes a subunit of the cohesin complex, on chromosome Xp11."
    },
    "synonyms": [
        {
            "id": "MONDO:0010370",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010370",
            "name": "Cornelia de Lange syndrome 2",
            "description": "An X-linked inherited form of Cornelia De Lange syndrome caused by mutations in the SMC1A gene mapped to chromosome Xp11.22. Patients have a milder form of the syndrome compared to patients with the NIPBL gene mutation."
        },
        {
            "id": "MONDO:0010370",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010370",
            "name": "Cornelia De Lange syndrome type 2",
            "description": ""
        },
        {
            "id": "MONDO:0010370",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010370",
            "name": "Cornelia de Lange syndrome 2",
            "description": ""
        },
        {
            "id": "MONDO:0010370",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010370",
            "name": "Cornelia de Lange syndrome 2, X-linked dominant",
            "description": ""
        },
        {
            "id": "MONDO:0010370",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010370",
            "name": "Cornelia de Lange syndrome caused by mutation in SMC1A",
            "description": ""
        },
        {
            "id": "MONDO:0010370",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010370",
            "name": "SMC1A Cornelia de Lange syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010370",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010370",
            "name": "X-linked Cornelia De Lange syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010370",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010370",
            "name": "CDLS2",
            "description": ""
        },
        {
            "id": "MIM:300590",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300590",
            "name": "Cornelia de Lange syndrome 2",
            "description": "Cornelia de Lange syndrome 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080506"
    ],
    "unlinked_id_list": []
}