{
    "disease_id": "DOID:0111673",
    "recommended_name": {
        "id": "DOID:0111673",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111673",
        "name": "Saul-Wilson syndrome",
        "description": "A bone development disease characterized by early developmental delay primarily involving speech, distinct facial features, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly that has_material_basis_in heterozygous mutation in COG4 on chromosome 16q22.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111673",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111673",
            "name": "SWILS",
            "description": ""
        },
        {
            "id": "DOID:0111673",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111673",
            "name": "microcephalic osteodysplastic dysplasia, Saul-Wilson type",
            "description": ""
        },
        {
            "id": "MONDO:0029146",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0029146",
            "name": "Saul-Wilson syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0029146",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0029146",
            "name": "SAUL-WILSON SYNDROME; SWILS",
            "description": ""
        },
        {
            "id": "MONDO:0029146",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0029146",
            "name": "microcephalic osteodysplastic dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0029146",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0029146",
            "name": "SWILS",
            "description": ""
        },
        {
            "id": "MIM:618150",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618150",
            "name": "Saul-Wilson syndrome",
            "description": "Saul-Wilson syndrome"
        }
    ]
}