{
    "disease_id": "DOID:0080507",
    "recommended_name": {
        "id": "DOID:0080507",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080507",
        "name": "Cornelia de Lange syndrome 3",
        "description": "A Cornelia de Lange syndrome that has_material_basis_in heterozygous mutation in the SMC3 gene on chromosome 10q25.2."
    },
    "synonyms": [
        {
            "id": "DOID:0080507",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0080507",
            "name": "CDLS3",
            "description": ""
        },
        {
            "id": "DOID:0080507",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0080507",
            "name": "Cornelia De Lange syndrome 3 with or without midline brain defects",
            "description": ""
        },
        {
            "id": "MONDO:0012555",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012555",
            "name": "Cornelia de Lange syndrome 3",
            "description": "Any Cornelia de Lange syndrome in which the cause of the disease is a mutation in the SMC3 gene."
        },
        {
            "id": "MONDO:0012555",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012555",
            "name": "Cornelia De Lange syndrome type 3",
            "description": ""
        },
        {
            "id": "MONDO:0012555",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012555",
            "name": "CDLS3",
            "description": ""
        },
        {
            "id": "MONDO:0012555",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012555",
            "name": "Cornelia de Lange syndrome caused by mutation in SMC3",
            "description": ""
        },
        {
            "id": "MONDO:0012555",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012555",
            "name": "Cornelia de Lange syndrome caused by mutation in Smc3",
            "description": ""
        },
        {
            "id": "MONDO:0012555",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012555",
            "name": "Cornelia DE Lange syndrome 3; CDLS3",
            "description": ""
        },
        {
            "id": "MONDO:0012555",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012555",
            "name": "Cornelia de Lange syndrome 3",
            "description": ""
        },
        {
            "id": "MONDO:0012555",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012555",
            "name": "SMC3 Cornelia de Lange syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012555",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012555",
            "name": "Smc3 Cornelia de Lange syndrome",
            "description": ""
        },
        {
            "id": "MIM:610759",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/610759",
            "name": "Cornelia de Lange syndrome 3 with or without midline brain defects",
            "description": "Cornelia de Lange syndrome 3 with or without midline brain defects"
        }
    ]
}