{
    "disease_id": "DOID:0111894",
    "recommended_name": {
        "id": "DOID:0111894",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111894",
        "name": "Diamond-Blackfan anemia 15 with mandibulofacial dysostosis",
        "description": "A Diamond-Blackfan anemia characterized by Diamond-Blackfan anemia and mandibulofacial dysostosis (micrognathia, downslanting palpebral fissures, submucosal cleft palate or bifid uvula, and malar hypoplasia) that has_material_basis_in heterozygous mutation in the RPS28 gene on chromosome 19p13.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111894",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111894",
            "name": "DBA15",
            "description": ""
        },
        {
            "id": "MONDO:0011639",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011639",
            "name": "Diamond-Blackfan anemia 15 with mandibulofacial dysostosis",
            "description": "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS28 gene."
        },
        {
            "id": "MONDO:0011639",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011639",
            "name": "Diamond Blackfan anaemia 15 with mandibulofacial dysostosis",
            "description": ""
        },
        {
            "id": "MONDO:0011639",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011639",
            "name": "Diamond Blackfan anemia 15 with mandibulofacial dysostosis",
            "description": ""
        },
        {
            "id": "MONDO:0011639",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011639",
            "name": "Diamond-Blackfan anaemia caused by mutation in RPS28",
            "description": ""
        },
        {
            "id": "MONDO:0011639",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011639",
            "name": "Diamond-Blackfan anemia 15 with mandibulofacial dysostosis",
            "description": ""
        },
        {
            "id": "MONDO:0011639",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011639",
            "name": "Diamond-Blackfan anemia caused by mutation in RPS28",
            "description": ""
        },
        {
            "id": "MONDO:0011639",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011639",
            "name": "RPS28 Diamond-Blackfan anaemia",
            "description": ""
        },
        {
            "id": "MONDO:0011639",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011639",
            "name": "RPS28 Diamond-Blackfan anemia",
            "description": ""
        },
        {
            "id": "MONDO:0011639",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011639",
            "name": "DBA15",
            "description": ""
        },
        {
            "id": "MIM:606164",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/606164",
            "name": "Diamond-Blackfan anemia 15, with mandibulofacial dysostosis",
            "description": "Diamond-Blackfan anemia 15, with mandibulofacial dysostosis"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111894"
    ],
    "unlinked_id_list": []
}