{
    "disease_id": "DOID:0111673", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0029146", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0029146", 
            "name": "SAUL-WILSON SYNDROME; SWILS"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0029146", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0029146", 
            "name": "microcephalic osteodysplastic dysplasia"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0029146", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0029146", 
            "name": "SWILS"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111673", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111673", 
            "name": "SWILS"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111673", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111673", 
            "name": "microcephalic osteodysplastic dysplasia, Saul-Wilson type"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0111673", 
        "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.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0111673", 
        "name": "Saul-Wilson syndrome"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/618150", 
            "id": "618150", 
            "database": "MIM"
        }
    ]
}
