{
    "disease_id": "DOID:0111897",
    "recommended_name": {
        "id": "DOID:0111897",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111897",
        "name": "Diamond-Blackfan anemia 14 with mandibulofacial dysostosis",
        "description": "A Diamond-Blackfan anemia characterized by Diamond-Blackfan anemia, bilateral microtia, and cleft palate that has_material_basis_in hemizygous mutation in TSR2 on chromosome Xp11.22."
    },
    "synonyms": [
        {
            "id": "DOID:0111897",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111897",
            "name": "DBA14",
            "description": ""
        },
        {
            "id": "MONDO:0010493",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010493",
            "name": "Diamond-Blackfan anemia 14 with mandibulofacial dysostosis",
            "description": "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the TSR2 gene."
        },
        {
            "id": "MONDO:0010493",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010493",
            "name": "Diamond-Blackfan anemia 14 with mandibulofacial dysostosis",
            "description": ""
        },
        {
            "id": "MONDO:0010493",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010493",
            "name": "Diamond-Blackfan anemia caused by mutation in TSR2",
            "description": ""
        },
        {
            "id": "MONDO:0010493",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010493",
            "name": "Diamond-Blackfan anemia 14 with mandibulofacial dysostosis; DBA14",
            "description": ""
        },
        {
            "id": "MONDO:0010493",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010493",
            "name": "DBA14",
            "description": ""
        },
        {
            "id": "MONDO:0010493",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010493",
            "name": "TSR2 Diamond-Blackfan anemia",
            "description": ""
        },
        {
            "id": "MIM:300946",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300946",
            "name": "Diamond-Blackfan anemia 14, with mandibulofacial dysostosis",
            "description": "Diamond-Blackfan anemia 14, with mandibulofacial dysostosis"
        }
    ]
}