{
    "disease_id": "DOID:0080505",
    "recommended_name": {
        "id": "DOID:0080505",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080505",
        "name": "Cornelia de Lange syndrome 1",
        "description": "A Cornelia de Lange syndrome characterized by facial dysmorphism, including low anterior hairline, arched eyebrows, synophrys, anteverted nares, maxillary prognathism, long philtrum, thin lips, and 'carp' mouth, in association with prenatal and postnatal growth retardation, impaired intellectual development, and, in many cases, upper limb anomalies that has_material_basis_in heterozygous mutation in the NIPBL gene, which encodes a component of the cohesin complex, on chromosome 5p13."
    },
    "synonyms": [
        {
            "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": "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",
            "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": "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": "CDLS1",
            "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"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080505"
    ],
    "unlinked_id_list": []
}