{
    "disease_id": "DOID:0050462",
    "recommended_name": {
        "id": "DOID:0050462",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050462",
        "name": "Antley-Bixler syndrome with disordered steroidogenesis",
        "description": "An Antley-Bixler 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": "https://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",
            "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:0008726",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008726",
            "name": "ABS1",
            "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"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050462"
    ],
    "unlinked_id_list": [],
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            "id": "DOID:0050462",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050462",
            "categories": []
        },
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            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008726",
            "categories": []
        },
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            "url": "https://www.omim.org/entry/201750",
            "categories": []
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                    "name": "wu:fb60a10",
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                    "name": "zgc:63480",
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                    "name": "NADPH--hemoprotein reductase",
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                    "id": "0050462",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0050462"
                }
            ]
        },
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            "uniprot_canonical_ac": "P16603-1",
            "uniprot_ac": "P16603",
            "uniprot_id": "NCPR_YEAST",
            "refseq_ac": "NP_011908",
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            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
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                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
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                    "id": "0050462",
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                    "name": "Rattus norvegicus",
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    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050462"
}