{
    "disease_id": "DOID:0081290",
    "recommended_name": {
        "id": "DOID:0081290",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0081290",
        "name": "Antley-Bixler syndrome without disordered steroidogenesis",
        "description": "An Antley-Bixler syndrome that has_material_basis_in heterozygous mutation in a fibroblast growth factor receptor gene, FGFR2, on chromosome 10q26 and is an exclusively skeletal form of Antley-Bixler syndrome."
    },
    "synonyms": [
        {
            "id": "MONDO:0020667",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020667",
            "name": "Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis",
            "description": ""
        },
        {
            "id": "MONDO:0020667",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020667",
            "name": "Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis",
            "description": ""
        },
        {
            "id": "MONDO:0020667",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020667",
            "name": "ABS2",
            "description": ""
        },
        {
            "id": "MONDO:0020667",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020667",
            "name": "multisynostotic osteodysgenesis with long bone fractures",
            "description": ""
        },
        {
            "id": "MONDO:0020667",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020667",
            "name": "osteodysgenesis, multisynostotic, with fractures",
            "description": ""
        },
        {
            "id": "MONDO:0020667",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020667",
            "name": "trapezoidocephaly-synostosis Syndrome",
            "description": ""
        },
        {
            "id": "MIM:207410",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/207410",
            "name": "Antley-Bixler syndrome, without genital anomalies or disordered steroidogenesis",
            "description": "Antley-Bixler syndrome, without genital anomalies or disordered steroidogenesis"
        }
    ]
}