{
    "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": [],
    "crossref": [
        {
            "id": "DOID:0111894",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111894",
            "categories": []
        },
        {
            "id": "MONDO:0011639",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011639",
            "categories": []
        },
        {
            "id": "MIM:606164",
            "database": "MIM",
            "url": "https://www.omim.org/entry/606164",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q6PBK3-1",
            "uniprot_ac": "Q6PBK3",
            "uniprot_id": "RS28_DANRE",
            "refseq_ac": "NP_998199",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Small ribosomal subunit protein eS28",
                    "type": "recommended"
                },
                {
                    "name": "40S ribosomal protein S28",
                    "type": "synonym"
                },
                {
                    "name": "small ribosomal subunit protein eS28",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "rps28",
                    "type": "recommended"
                },
                {
                    "name": "fb07a10",
                    "type": "synonym"
                },
                {
                    "name": "rps28",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb07a10",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb94f01",
                    "type": "synonym"
                },
                {
                    "name": "zgc:73367",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6PBK3-1",
            "evidence": [
                {
                    "id": "0111894",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111894"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P62858-1",
            "uniprot_ac": "P62858",
            "uniprot_id": "RS28_MOUSE",
            "refseq_ac": "NP_058540",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Small ribosomal subunit protein eS28",
                    "type": "recommended"
                },
                {
                    "name": "40S ribosomal protein S28",
                    "type": "synonym"
                },
                {
                    "name": "small ribosomal subunit protein eS28",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rps28",
                    "type": "recommended"
                },
                {
                    "name": "Rps28",
                    "type": "synonym"
                }
            ],
            "record_id": "P62858-1",
            "evidence": [
                {
                    "id": "0111894",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111894"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P62857-1",
            "uniprot_ac": "P62857",
            "uniprot_id": "RS28_HUMAN",
            "refseq_ac": "NP_001022",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Small ribosomal subunit protein eS28",
                    "type": "recommended"
                },
                {
                    "name": "40S ribosomal protein S28",
                    "type": "synonym"
                },
                {
                    "name": "small ribosomal subunit protein eS28",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RPS28",
                    "type": "recommended"
                },
                {
                    "name": "DBA15",
                    "type": "synonym"
                },
                {
                    "name": "RPS28",
                    "type": "synonym"
                },
                {
                    "name": "S28",
                    "type": "synonym"
                },
                {
                    "name": "eS28",
                    "type": "synonym"
                }
            ],
            "record_id": "P62857-1",
            "evidence": [
                {
                    "id": "606164",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/606164"
                },
                {
                    "id": "0111894",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111894"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q3E7X9-1",
            "uniprot_ac": "Q3E7X9",
            "uniprot_id": "RS28A_YEAST",
            "refseq_ac": "NP_014810",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Small ribosomal subunit protein eS28A",
                    "type": "recommended"
                },
                {
                    "name": "40S ribosomal protein S28-A",
                    "type": "synonym"
                },
                {
                    "name": "40S ribosomal protein eS28 RPS28A",
                    "type": "synonym"
                },
                {
                    "name": "S33",
                    "type": "synonym"
                },
                {
                    "name": "YS27",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RPS28A",
                    "type": "recommended"
                },
                {
                    "name": "O3600",
                    "type": "synonym"
                },
                {
                    "name": "RPS28A",
                    "type": "synonym"
                },
                {
                    "name": "RPS33A",
                    "type": "synonym"
                },
                {
                    "name": "RPS33",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3E7X9-1",
            "evidence": [
                {
                    "id": "0111894",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111894"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P0C0X0-1",
            "uniprot_ac": "P0C0X0",
            "uniprot_id": "RS28B_YEAST",
            "refseq_ac": "NP_013366",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Small ribosomal subunit protein eS28B",
                    "type": "recommended"
                },
                {
                    "name": "40S ribosomal protein S28-B",
                    "type": "synonym"
                },
                {
                    "name": "40S ribosomal protein eS28 RPS28B",
                    "type": "synonym"
                },
                {
                    "name": "S33",
                    "type": "synonym"
                },
                {
                    "name": "YS27",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RPS28B",
                    "type": "recommended"
                },
                {
                    "name": "L8479.5",
                    "type": "synonym"
                },
                {
                    "name": "RPS28B",
                    "type": "synonym"
                },
                {
                    "name": "RPS33B",
                    "type": "synonym"
                }
            ],
            "record_id": "P0C0X0-1",
            "evidence": [
                {
                    "id": "0111894",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111894"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P62859-1",
            "uniprot_ac": "P62859",
            "uniprot_id": "RS28_RAT",
            "refseq_ac": "NP_001099200",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Small ribosomal subunit protein eS28",
                    "type": "recommended"
                },
                {
                    "name": "40S ribosomal protein S28",
                    "type": "synonym"
                },
                {
                    "name": "small ribosomal subunit protein eS28",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rps28-ps4",
                    "type": "recommended"
                },
                {
                    "name": "Rps28-ps5",
                    "type": "recommended"
                },
                {
                    "name": "Rps28",
                    "type": "recommended"
                },
                {
                    "name": "Rps28-ps4",
                    "type": "synonym"
                },
                {
                    "name": "Rps28-ps5",
                    "type": "synonym"
                },
                {
                    "name": "Rps28l2",
                    "type": "synonym"
                },
                {
                    "name": "Rps28l3",
                    "type": "synonym"
                },
                {
                    "name": "Rps28",
                    "type": "synonym"
                }
            ],
            "record_id": "P62859-1",
            "evidence": [
                {
                    "id": "0111894",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111894"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VAB9-1",
            "uniprot_ac": "Q9VAB9",
            "uniprot_id": "Q9VAB9_DROME",
            "refseq_ac": "NP_651764",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Small ribosomal subunit protein eS28",
                    "type": "recommended"
                },
                {
                    "name": "40S ribosomal protein S28",
                    "type": "synonym"
                },
                {
                    "name": "CG15527-PA",
                    "type": "synonym"
                },
                {
                    "name": "RpS28a-PA",
                    "type": "synonym"
                },
                {
                    "name": "ribosomal protein S28a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RpS28a",
                    "type": "recommended"
                },
                {
                    "name": "CG15527",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG15527",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG15527",
                    "type": "synonym"
                },
                {
                    "name": "RpS28a",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VAB9-1",
            "evidence": [
                {
                    "id": "0111894",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111894"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W334-1",
            "uniprot_ac": "Q9W334",
            "uniprot_id": "RS28_DROME",
            "refseq_ac": "NP_001285059",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Small ribosomal subunit protein eS28",
                    "type": "recommended"
                },
                {
                    "name": "40S ribosomal protein S28",
                    "type": "synonym"
                },
                {
                    "name": "CG2998-PB",
                    "type": "synonym"
                },
                {
                    "name": "RpS28b-PB",
                    "type": "synonym"
                },
                {
                    "name": "ribosomal protein S28b, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RpS28b",
                    "type": "recommended"
                },
                {
                    "name": "CG2998",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG2998",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG2998",
                    "type": "synonym"
                },
                {
                    "name": "RS28_DROME",
                    "type": "synonym"
                },
                {
                    "name": "RpS28b",
                    "type": "synonym"
                },
                {
                    "name": "RpS28",
                    "type": "synonym"
                },
                {
                    "name": "S28e",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W334-1",
            "evidence": [
                {
                    "id": "0111894",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111894"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A8DYY3-1",
            "uniprot_ac": "A8DYY3",
            "uniprot_id": "A8DYY3_DROME",
            "refseq_ac": "NP_001097132",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Small ribosomal subunit protein eS28",
                    "type": "recommended"
                },
                {
                    "name": "40S ribosomal protein S28",
                    "type": "synonym"
                },
                {
                    "name": "CG34182-PA",
                    "type": "synonym"
                },
                {
                    "name": "RpS28-like-PA",
                    "type": "synonym"
                },
                {
                    "name": "ribosomal protein S28-like",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RpS28-like",
                    "type": "recommended"
                },
                {
                    "name": "CG34182",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG34182",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG34182",
                    "type": "synonym"
                },
                {
                    "name": "RpS28-like",
                    "type": "synonym"
                }
            ],
            "record_id": "A8DYY3-1",
            "evidence": [
                {
                    "id": "0111894",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111894"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111894"
}