{
    "disease_id": "DOID:0111673",
    "recommended_name": {
        "id": "DOID:0111673",
        "resource": "Disease Ontology",
        "url": "https://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 the COG4 gene on chromosome 16q22.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111673",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111673",
            "name": "SWILS",
            "description": ""
        },
        {
            "id": "DOID:0111673",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111673",
            "name": "microcephalic osteodysplastic dysplasia, Saul-Wilson type",
            "description": ""
        },
        {
            "id": "MONDO:0019407",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019407",
            "name": "microcephalic osteodysplastic dysplasia, Saul-Wilson type",
            "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."
        },
        {
            "id": "MONDO:0019407",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019407",
            "name": "SWILS",
            "description": ""
        },
        {
            "id": "MONDO:0019407",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019407",
            "name": "Saul-Wilson syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0019407",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019407",
            "name": "microcephalic osteodysplastic dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0019407",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019407",
            "name": "microcephalic osteodysplastic dysplasia, Saul-Wilson type",
            "description": ""
        },
        {
            "id": "MIM:618150",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618150",
            "name": "Saul-Wilson syndrome",
            "description": "Saul-Wilson syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111673"
    ],
    "unlinked_id_list": []
}