{
    "disease_id": "DOID:0111891",
    "recommended_name": {
        "id": "DOID:0111891",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111891",
        "name": "Diamond-Blackfan anemia 20",
        "description": "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS15A gene on chromosome 16p12.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111891",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111891",
            "name": "DBA20",
            "description": ""
        },
        {
            "id": "DOID:0111891",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111891",
            "name": "RPS15A-related Diamond-Blackfan anemia",
            "description": ""
        },
        {
            "id": "MONDO:0032670",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032670",
            "name": "Diamond-Blackfan anemia 20",
            "description": ""
        },
        {
            "id": "MONDO:0032670",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032670",
            "name": "DBA20",
            "description": ""
        },
        {
            "id": "MIM:618313",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618313",
            "name": "Diamond-Blackfan anemia 20",
            "description": "Diamond-Blackfan anemia 20"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111891"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111891",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111891",
            "categories": []
        },
        {
            "id": "MONDO:0032670",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032670",
            "categories": []
        },
        {
            "id": "MIM:618313",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618313",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q6Q420-1",
            "uniprot_ac": "Q6Q420",
            "uniprot_id": "RS15A_DANRE",
            "refseq_ac": "NP_997927",
            "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 uS8",
                    "type": "recommended"
                },
                {
                    "name": "40S ribosomal protein S15a",
                    "type": "synonym"
                },
                {
                    "name": "small ribosomal subunit protein uS8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "rps15a",
                    "type": "recommended"
                },
                {
                    "name": "rps15a",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb04b07",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6Q420-1",
            "evidence": [
                {
                    "id": "0111891",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111891"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P62245-1",
            "uniprot_ac": "P62245",
            "uniprot_id": "RS15A_MOUSE",
            "refseq_ac": "NP_733769",
            "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 uS8",
                    "type": "recommended"
                },
                {
                    "name": "40S ribosomal protein S15a",
                    "type": "synonym"
                },
                {
                    "name": "small ribosomal subunit protein uS8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rps15a",
                    "type": "recommended"
                },
                {
                    "name": "A630031B11Rik",
                    "type": "synonym"
                },
                {
                    "name": "Rps15a",
                    "type": "synonym"
                }
            ],
            "record_id": "P62245-1",
            "evidence": [
                {
                    "id": "0111891",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111891"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P62244-1",
            "uniprot_ac": "P62244",
            "uniprot_id": "RS15A_HUMAN",
            "refseq_ac": "NP_001010",
            "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 uS8",
                    "type": "recommended"
                },
                {
                    "name": "40S ribosomal protein S15a",
                    "type": "synonym"
                },
                {
                    "name": "small ribosomal subunit protein uS8",
                    "type": "synonym"
                },
                {
                    "name": "up-regulated by HBV X protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RPS15A",
                    "type": "recommended"
                },
                {
                    "name": "DBA20",
                    "type": "synonym"
                },
                {
                    "name": "RPS15A",
                    "type": "synonym"
                },
                {
                    "name": "S15a",
                    "type": "synonym"
                },
                {
                    "name": "SW-cl.82",
                    "type": "synonym"
                },
                {
                    "name": "uS8",
                    "type": "synonym"
                }
            ],
            "record_id": "P62244-1",
            "evidence": [
                {
                    "id": "618313",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618313"
                },
                {
                    "id": "0111891",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111891"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q3E7Y3-1",
            "uniprot_ac": "Q3E7Y3",
            "uniprot_id": "RS22B_YEAST",
            "refseq_ac": "NP_013471",
            "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 uS8B",
                    "type": "recommended"
                },
                {
                    "name": "40S ribosomal protein S22-B",
                    "type": "synonym"
                },
                {
                    "name": "40S ribosomal protein uS8 RPS22B",
                    "type": "synonym"
                },
                {
                    "name": "RP50",
                    "type": "synonym"
                },
                {
                    "name": "S24",
                    "type": "synonym"
                },
                {
                    "name": "YP58",
                    "type": "synonym"
                },
                {
                    "name": "YS22",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RPS22B",
                    "type": "recommended"
                },
                {
                    "name": "L8039.6",
                    "type": "synonym"
                },
                {
                    "name": "RPS22B",
                    "type": "synonym"
                },
                {
                    "name": "RPS24B",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3E7Y3-1",
            "evidence": [
                {
                    "id": "0111891",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111891"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P0C0W1-1",
            "uniprot_ac": "P0C0W1",
            "uniprot_id": "RS22A_YEAST",
            "refseq_ac": "NP_012345",
            "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 uS8A",
                    "type": "recommended"
                },
                {
                    "name": "40S ribosomal protein S22-A",
                    "type": "synonym"
                },
                {
                    "name": "40S ribosomal protein uS8 RPS22A",
                    "type": "synonym"
                },
                {
                    "name": "RP50",
                    "type": "synonym"
                },
                {
                    "name": "S24",
                    "type": "synonym"
                },
                {
                    "name": "YP58",
                    "type": "synonym"
                },
                {
                    "name": "YS22",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RPS22A",
                    "type": "recommended"
                },
                {
                    "name": "J0355",
                    "type": "synonym"
                },
                {
                    "name": "RPS22A",
                    "type": "synonym"
                },
                {
                    "name": "RPS24A",
                    "type": "synonym"
                },
                {
                    "name": "RPS24",
                    "type": "synonym"
                }
            ],
            "record_id": "P0C0W1-1",
            "evidence": [
                {
                    "id": "0111891",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111891"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2K6I0-1",
            "uniprot_ac": "A0A0G2K6I0",
            "uniprot_id": "A0A0G2K6I0_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                {
                    "name": "Small ribosomal subunit protein uS8",
                    "type": "recommended"
                },
                {
                    "name": "40S ribosomal protein S15a",
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                }
            ],
            "gene_names": [
                {
                    "name": "Rps15a-ps9",
                    "type": "recommended"
                }
            ],
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                    "id": "0111891",
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            ]
        },
        {
            "uniprot_canonical_ac": "P62246-1",
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                }
            ],
            "protein_names": [
                {
                    "name": "Small ribosomal subunit protein uS8",
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                },
                {
                    "name": "40S ribosomal protein S15a",
                    "type": "synonym"
                },
                {
                    "name": "small ribosomal subunit protein uS8",
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                }
            ],
            "gene_names": [
                {
                    "name": "Rps15al4",
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                },
                {
                    "name": "Rps15a",
                    "type": "recommended"
                },
                {
                    "name": "AC135389.1",
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                },
                {
                    "name": "LOC103693101",
                    "type": "synonym"
                },
                {
                    "name": "Rps15al4",
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                },
                {
                    "name": "Rps15al7",
                    "type": "synonym"
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                {
                    "name": "Rps15a",
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            ],
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                    "id": "0111891",
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            ]
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        {
            "uniprot_canonical_ac": "D4A2Q0-1",
            "uniprot_ac": "D4A2Q0",
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                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fibronectin type III domain-containing protein 10",
                    "type": "recommended"
                },
                {
                    "name": "Fibronectin type-III domain-containing transmembrane protein C1orf233 homolog",
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                },
                {
                    "name": "fibronectin type III domain-containing protein 10 precursor",
                    "type": "synonym"
                },
                {
                    "name": "fibronectin type III domain-containing protein 10",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fndc10",
                    "type": "recommended"
                },
                {
                    "name": "Rps15al2",
                    "type": "recommended"
                },
                {
                    "name": "AABR07072261.1",
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                {
                    "name": "Fndc10",
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            ],
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                {
                    "id": "0111891",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0111891"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P48149-1",
            "uniprot_ac": "P48149",
            "uniprot_id": "RS15A_DROME",
            "refseq_ac": "NP_001162738",
            "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 uS8A",
                    "type": "recommended"
                },
                {
                    "name": "40S ribosomal protein S15Aa",
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                },
                {
                    "name": "CG2033-PF",
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                },
                {
                    "name": "RpS15Aa-PF",
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                },
                {
                    "name": "ribosomal protein S15Aa, isoform F",
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                },
                {
                    "name": "ribosomal protein S15A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RpS15Aa",
                    "type": "recommended"
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                {
                    "name": "CG2033",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG2033",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG2033",
                    "type": "synonym"
                },
                {
                    "name": "Rp S15 Aa",
                    "type": "synonym"
                },
                {
                    "name": "RpS15Aa",
                    "type": "synonym"
                },
                {
                    "name": "RpS15A",
                    "type": "synonym"
                },
                {
                    "name": "RpS15a",
                    "type": "synonym"
                },
                {
                    "name": "S15Aa",
                    "type": "synonym"
                },
                {
                    "name": "S15",
                    "type": "synonym"
                },
                {
                    "name": "S8",
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                {
                    "name": "anon-EST:Posey44",
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                {
                    "id": "0111891",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111891"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7KR04-1",
            "uniprot_ac": "Q7KR04",
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                {
                    "name": "Drosophila melanogaster",
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                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Small ribosomal subunit protein uS8B",
                    "type": "recommended"
                },
                {
                    "name": "40S ribosomal protein S15Ab",
                    "type": "synonym"
                },
                {
                    "name": "CG12324-PA",
                    "type": "synonym"
                },
                {
                    "name": "RpS15Ab-PA",
                    "type": "synonym"
                },
                {
                    "name": "ribosomal protein S15Ab",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RpS15Ab",
                    "type": "recommended"
                },
                {
                    "name": "CG12324",
                    "type": "synonym"
                },
                {
                    "name": "CT22283",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG12324",
                    "type": "synonym"
                },
                {
                    "name": "RPS15Ab",
                    "type": "synonym"
                },
                {
                    "name": "RpS15Ab",
                    "type": "synonym"
                },
                {
                    "name": "RpS15A",
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                }
            ],
            "record_id": "Q7KR04-1",
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                {
                    "id": "0111891",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111891"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111891"
}