{
    "disease_id": "DOID:0112294",
    "recommended_name": {
        "id": "DOID:0112294",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0112294",
        "name": "spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability",
        "description": "A syndrome characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate, and intellectual disability."
    },
    "synonyms": [
        {
            "id": "MONDO:0011261",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011261",
            "name": "spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability",
            "description": "A spondyloepiphyseal dysplasia characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit. This is an n-of-1 use case where only one patient or family has been described with this disorder."
        },
        {
            "id": "MONDO:0011261",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011261",
            "name": "spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0011261",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011261",
            "name": "spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and mental retardation",
            "description": ""
        },
        {
            "id": "MONDO:0011261",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011261",
            "name": "spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataract-intellectual disability syndrome",
            "description": ""
        }
    ]
}