{
    "disease_id": "DOID:0050462",
    "recommended_name": {
        "id": "DOID:0050462",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0050462",
        "name": "Antley-Bixler syndrome",
        "description": "A syndrome that is characterized at birth or prenatally by malformations and deformities affecting the majority of the skeleton and other areas of the body with autosomal recessive inheritance of the FGFR2 gene."
    },
    "synonyms": [
        {
            "id": "DOID:0050462",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0050462",
            "name": "trapezoidocephaly-synostosis syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008726",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008726",
            "name": "Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis",
            "description": ""
        },
        {
            "id": "MONDO:0008726",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008726",
            "name": "Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis; ABS1",
            "description": ""
        },
        {
            "id": "MONDO:0008726",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008726",
            "name": "ABS1",
            "description": ""
        },
        {
            "id": "MONDO:0008726",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008726",
            "name": "Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis",
            "description": ""
        },
        {
            "id": "MONDO:0008726",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008726",
            "name": "Antley-Bixler syndrome with genital anomaly and disorder of 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": "trapezoidocephaly-synostosis Syndrome",
            "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": "Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis; ABS2",
            "description": ""
        },
        {
            "id": "MONDO:0020667",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020667",
            "name": "osteodysgenesis, multisynostotic, with fractures",
            "description": ""
        },
        {
            "id": "MIM:201750",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/201750",
            "name": "Antley-Bixler syndrome, with genital anomalies and disordered steroidogenesis",
            "description": "Antley-Bixler syndrome, with genital anomalies and disordered steroidogenesis"
        },
        {
            "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"
        }
    ]
}