{
    "disease_id": "DOID:0111897", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010493", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010493", 
            "name": "Diamond-Blackfan anemia caused by mutation in TSR2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010493", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010493", 
            "name": "Diamond-Blackfan anemia 14 with mandibulofacial dysostosis; DBA14"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010493", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010493", 
            "name": "DBA14"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010493", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010493", 
            "name": "TSR2 Diamond-Blackfan anemia"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111897", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111897", 
            "name": "DBA14"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0111897", 
        "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.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0111897", 
        "name": "Diamond-Blackfan anemia 14 with mandibulofacial dysostosis"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0111897#disease-associations", 
            "id": "0111897", 
            "database": "Alliance of Genome Resources"
        }
    ]
}