{
    "disease_id": "DOID:0111887",
    "recommended_name": {
        "id": "DOID:0111887",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111887",
        "name": "Diamond-blackfan anemia 3",
        "description": "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS24 gene on chromosome 10q22.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111887",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111887",
            "name": "DBA3",
            "description": ""
        },
        {
            "id": "DOID:0111887",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111887",
            "name": "RPS24-related Diamond-Blackfan anemia",
            "description": ""
        },
        {
            "id": "MONDO:0012529",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012529",
            "name": "Diamond-Blackfan anemia 3",
            "description": "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS24 gene."
        },
        {
            "id": "MONDO:0012529",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012529",
            "name": "Diamond-Blackfan Anaemia type 3",
            "description": ""
        },
        {
            "id": "MONDO:0012529",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012529",
            "name": "Diamond-Blackfan Anemia type 3",
            "description": ""
        },
        {
            "id": "MONDO:0012529",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012529",
            "name": "Diamond-Blackfan anaemia caused by mutation in RPS24",
            "description": ""
        },
        {
            "id": "MONDO:0012529",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012529",
            "name": "Diamond-Blackfan anemia 3",
            "description": ""
        },
        {
            "id": "MONDO:0012529",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012529",
            "name": "Diamond-Blackfan anemia caused by mutation in RPS24",
            "description": ""
        },
        {
            "id": "MONDO:0012529",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012529",
            "name": "RPS24 Diamond-Blackfan anaemia",
            "description": ""
        },
        {
            "id": "MONDO:0012529",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012529",
            "name": "RPS24 Diamond-Blackfan anemia",
            "description": ""
        },
        {
            "id": "MONDO:0012529",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012529",
            "name": "DBA3",
            "description": ""
        },
        {
            "id": "MONDO:0012529",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012529",
            "name": "anaemia Diamond-Blackfan 3",
            "description": ""
        },
        {
            "id": "MONDO:0012529",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012529",
            "name": "anemia Diamond-Blackfan 3",
            "description": ""
        },
        {
            "id": "MIM:610629",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/610629",
            "name": "Diamond-Blackfan anemia 3",
            "description": "Diamond-Blackfan anemia 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111887"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111887",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111887",
            "categories": []
        },
        {
            "id": "MONDO:0012529",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012529",
            "categories": []
        },
        {
            "id": "MIM:610629",
            "database": "MIM",
            "url": "https://www.omim.org/entry/610629",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P62849-1",
            "uniprot_ac": "P62849",
            "uniprot_id": "RS24_MOUSE",
            "refseq_ac": "NP_035427",
            "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 eS24",
                    "type": "recommended"
                },
                {
                    "name": "40S ribosomal protein S24",
                    "type": "synonym"
                },
                {
                    "name": "MRP S24",
                    "type": "synonym"
                },
                {
                    "name": "small ribosomal subunit protein eS24 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "small ribosomal subunit protein eS24",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rps24",
                    "type": "recommended"
                },
                {
                    "name": "Rps24",
                    "type": "synonym"
                }
            ],
            "record_id": "P62849-1",
            "evidence": [
                {
                    "id": "0111887",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111887"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P62847-1",
            "uniprot_ac": "P62847",
            "uniprot_id": "RS24_HUMAN",
            "refseq_ac": "NP_001017",
            "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 eS24",
                    "type": "recommended"
                },
                {
                    "name": "40S ribosomal protein S24",
                    "type": "synonym"
                },
                {
                    "name": "small ribosomal subunit protein eS24 isoform c",
                    "type": "synonym"
                },
                {
                    "name": "small ribosomal subunit protein eS24",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RPS24",
                    "type": "recommended"
                },
                {
                    "name": "DBA3",
                    "type": "synonym"
                },
                {
                    "name": "RPS24",
                    "type": "synonym"
                },
                {
                    "name": "S24",
                    "type": "synonym"
                },
                {
                    "name": "eS24",
                    "type": "synonym"
                }
            ],
            "record_id": "P62847-1",
            "evidence": [
                {
                    "id": "610629",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/610629"
                },
                {
                    "id": "0111887",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111887"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P0CX32-1",
            "uniprot_ac": "P0CX32",
            "uniprot_id": "RS24B_YEAST",
            "refseq_ac": "NP_012195",
            "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 eS24B",
                    "type": "recommended"
                },
                {
                    "name": "40S ribosomal protein S24-B",
                    "type": "synonym"
                },
                {
                    "name": "40S ribosomal protein eS24 RPS24B",
                    "type": "synonym"
                },
                {
                    "name": "RP50",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RPS24B",
                    "type": "recommended"
                },
                {
                    "name": "RPS24B",
                    "type": "synonym"
                },
                {
                    "name": "RPS24EB",
                    "type": "synonym"
                }
            ],
            "record_id": "P0CX32-1",
            "evidence": [
                {
                    "id": "0111887",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111887"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P0CX31-1",
            "uniprot_ac": "P0CX31",
            "uniprot_id": "RS24A_YEAST",
            "refseq_ac": "NP_010997",
            "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 eS24A",
                    "type": "recommended"
                },
                {
                    "name": "40S ribosomal protein S24-A",
                    "type": "synonym"
                },
                {
                    "name": "40S ribosomal protein eS24 RPS24A",
                    "type": "synonym"
                },
                {
                    "name": "RP50",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RPS24A",
                    "type": "recommended"
                },
                {
                    "name": "RPS24A",
                    "type": "synonym"
                },
                {
                    "name": "RPS24EA",
                    "type": "synonym"
                }
            ],
            "record_id": "P0CX31-1",
            "evidence": [
                {
                    "id": "0111887",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111887"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P62850-1",
            "uniprot_ac": "P62850",
            "uniprot_id": "RS24_RAT",
            "refseq_ac": "NP_112374",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Small ribosomal subunit protein eS24",
                    "type": "recommended"
                },
                {
                    "name": "40S ribosomal protein S24",
                    "type": "synonym"
                },
                {
                    "name": "small ribosomal subunit protein eS24",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rps24-ps17",
                    "type": "recommended"
                },
                {
                    "name": "Rps24l3",
                    "type": "recommended"
                },
                {
                    "name": "Rps24l7",
                    "type": "recommended"
                },
                {
                    "name": "Rps24",
                    "type": "recommended"
                },
                {
                    "name": "L33",
                    "type": "synonym"
                },
                {
                    "name": "RGD1564325",
                    "type": "synonym"
                },
                {
                    "name": "Rps24-ps15",
                    "type": "synonym"
                },
                {
                    "name": "Rps24-ps18",
                    "type": "synonym"
                },
                {
                    "name": "Rps24-ps19",
                    "type": "synonym"
                },
                {
                    "name": "Rps24l2",
                    "type": "synonym"
                },
                {
                    "name": "Rps24l3",
                    "type": "synonym"
                },
                {
                    "name": "Rps24l4",
                    "type": "synonym"
                },
                {
                    "name": "Rps24l5",
                    "type": "synonym"
                },
                {
                    "name": "Rps24l7",
                    "type": "synonym"
                },
                {
                    "name": "Rps24",
                    "type": "synonym"
                }
            ],
            "record_id": "P62850-1",
            "evidence": [
                {
                    "id": "0111887",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111887"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W229-1",
            "uniprot_ac": "Q9W229",
            "uniprot_id": "Q9W229_DROME",
            "refseq_ac": "NP_611693",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "40S ribosomal protein S24",
                    "type": "recommended"
                },
                {
                    "name": "40S ribosomal protein S24",
                    "type": "synonym"
                },
                {
                    "name": "CG3751-PA",
                    "type": "synonym"
                },
                {
                    "name": "RpS24-PA",
                    "type": "synonym"
                },
                {
                    "name": "lethal (2) SH2053",
                    "type": "synonym"
                },
                {
                    "name": "ribosomal protein S24",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RpS24",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:RE59324",
                    "type": "synonym"
                },
                {
                    "name": "CG3751",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3751",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG3751",
                    "type": "synonym"
                },
                {
                    "name": "Rp S24",
                    "type": "synonym"
                },
                {
                    "name": "RpS24",
                    "type": "synonym"
                },
                {
                    "name": "S24e",
                    "type": "synonym"
                },
                {
                    "name": "S24",
                    "type": "synonym"
                },
                {
                    "name": "l(2)SH2 2053",
                    "type": "synonym"
                },
                {
                    "name": "l(2)SH2053",
                    "type": "synonym"
                },
                {
                    "name": "rpS24",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W229-1",
            "evidence": [
                {
                    "id": "0111887",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111887"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111887"
}