{
    "disease_id": "DOID:11725",
    "recommended_name": {
        "id": "DOID:11725",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:11725",
        "name": "Cornelia de Lange syndrome",
        "description": "A syndrome that is characterized by slow growth before and after birth, intellectual disability that is usually severe to profound, skeletal abnormalities involving the arms and hands, and distinctive facial features."
    },
    "synonyms": [
        {
            "id": "DOID:11725",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:11725",
            "name": "Brachmann de Lange syndrome",
            "description": ""
        },
        {
            "id": "DOID:11725",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:11725",
            "name": "De Lange syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007387",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007387",
            "name": "Cornelia de Lange syndrome 1",
            "description": "Any Cornelia de Lange syndrome in which the cause of the disease is a mutation in the NIPBL gene."
        },
        {
            "id": "MONDO:0007387",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007387",
            "name": "Cdl",
            "description": ""
        },
        {
            "id": "MONDO:0007387",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007387",
            "name": "De Lange syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007387",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007387",
            "name": "Brachmann-De Lange syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007387",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007387",
            "name": "CDLS1",
            "description": ""
        },
        {
            "id": "MONDO:0007387",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007387",
            "name": "NIPBL Cornelia de Lange syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007387",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007387",
            "name": "Cornelia De Lange syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0007387",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007387",
            "name": "Cornelia DE Lange syndrome 1; CDLS1",
            "description": ""
        },
        {
            "id": "MONDO:0007387",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007387",
            "name": "typus Degenerativus Amstelodamensis",
            "description": ""
        },
        {
            "id": "MONDO:0007387",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007387",
            "name": "Cornelia de Lange syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0007387",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007387",
            "name": "Cornelia de Lange syndrome caused by mutation in NIPBL",
            "description": ""
        },
        {
            "id": "MIM:122470",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/122470",
            "name": "Cornelia de Lange syndrome 1",
            "description": "Cornelia de Lange syndrome 1"
        }
    ]
}
