{
    "disease_id": "DOID:0111884",
    "recommended_name": {
        "id": "DOID:0111884",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111884",
        "name": "Diamond-Blackfan anemia 9",
        "description": "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS10 gene on chromosome 6p21.31."
    },
    "synonyms": [
        {
            "id": "DOID:0111884",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111884",
            "name": "DBA9",
            "description": ""
        },
        {
            "id": "DOID:0111884",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111884",
            "name": "RPS10-related Diamond-Blackfan anemia",
            "description": ""
        },
        {
            "id": "MONDO:0013216",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013216",
            "name": "Diamond-Blackfan anemia 9",
            "description": "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS10 gene."
        },
        {
            "id": "MONDO:0013216",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013216",
            "name": "Diamond-Blackfan Anaemia type 9",
            "description": ""
        },
        {
            "id": "MONDO:0013216",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013216",
            "name": "Diamond-Blackfan Anemia type 9",
            "description": ""
        },
        {
            "id": "MONDO:0013216",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013216",
            "name": "Diamond-Blackfan anaemia caused by mutation in RPS10",
            "description": ""
        },
        {
            "id": "MONDO:0013216",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013216",
            "name": "Diamond-Blackfan anemia 9",
            "description": ""
        },
        {
            "id": "MONDO:0013216",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013216",
            "name": "Diamond-Blackfan anemia caused by mutation in RPS10",
            "description": ""
        },
        {
            "id": "MONDO:0013216",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013216",
            "name": "RPS10 Diamond-Blackfan anaemia",
            "description": ""
        },
        {
            "id": "MONDO:0013216",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013216",
            "name": "RPS10 Diamond-Blackfan anemia",
            "description": ""
        },
        {
            "id": "MONDO:0013216",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013216",
            "name": "DBA9",
            "description": ""
        },
        {
            "id": "MIM:613308",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613308",
            "name": "Diamond-Blackfan anemia 9",
            "description": "Diamond-Blackfan anemia 9"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111884"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111884",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111884",
            "categories": []
        },
        {
            "id": "MONDO:0013216",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013216",
            "categories": []
        },
        {
            "id": "MIM:613308",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613308",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P63325-1",
            "uniprot_ac": "P63325",
            "uniprot_id": "RS10_MOUSE",
            "refseq_ac": "NP_080239",
            "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 eS10",
                    "type": "recommended"
                },
                {
                    "name": "40S ribosomal protein S10",
                    "type": "synonym"
                },
                {
                    "name": "small ribosomal subunit protein eS10 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "small ribosomal subunit protein eS10",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rps10",
                    "type": "recommended"
                },
                {
                    "name": "2210402A09Rik",
                    "type": "synonym"
                },
                {
                    "name": "Rps10",
                    "type": "synonym"
                }
            ],
            "record_id": "P63325-1",
            "evidence": [
                {
                    "id": "0111884",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111884"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P46783-1",
            "uniprot_ac": "P46783",
            "uniprot_id": "RS10_HUMAN",
            "refseq_ac": "NP_001005",
            "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 eS10",
                    "type": "recommended"
                },
                {
                    "name": "40S ribosomal protein S10",
                    "type": "synonym"
                },
                {
                    "name": "small ribosomal subunit protein eS10",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RPS10",
                    "type": "recommended"
                },
                {
                    "name": "DBA9",
                    "type": "synonym"
                },
                {
                    "name": "RPS10",
                    "type": "synonym"
                },
                {
                    "name": "S10",
                    "type": "synonym"
                },
                {
                    "name": "eS10",
                    "type": "synonym"
                }
            ],
            "record_id": "P46783-1",
            "evidence": [
                {
                    "id": "613308",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613308"
                },
                {
                    "id": "0111884",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111884"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q08745-1",
            "uniprot_ac": "Q08745",
            "uniprot_id": "RS10A_YEAST",
            "refseq_ac": "NP_014936",
            "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 eS10A",
                    "type": "recommended"
                },
                {
                    "name": "40S ribosomal protein S10-A",
                    "type": "synonym"
                },
                {
                    "name": "40S ribosomal protein eS10 RPS10A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RPS10A",
                    "type": "recommended"
                },
                {
                    "name": "RPS10A",
                    "type": "synonym"
                }
            ],
            "record_id": "Q08745-1",
            "evidence": [
                {
                    "id": "0111884",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111884"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P46784-1",
            "uniprot_ac": "P46784",
            "uniprot_id": "RS10B_YEAST",
            "refseq_ac": "NP_013957",
            "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 eS10B",
                    "type": "recommended"
                },
                {
                    "name": "40S ribosomal protein S10-B",
                    "type": "synonym"
                },
                {
                    "name": "40S ribosomal protein eS10 RPS10B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RPS10B",
                    "type": "recommended"
                },
                {
                    "name": "RPS10B",
                    "type": "synonym"
                },
                {
                    "name": "YM9959.12",
                    "type": "synonym"
                }
            ],
            "record_id": "P46784-1",
            "evidence": [
                {
                    "id": "0111884",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111884"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P63326-1",
            "uniprot_ac": "P63326",
            "uniprot_id": "RS10_RAT",
            "refseq_ac": "NP_112371",
            "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 eS10",
                    "type": "recommended"
                },
                {
                    "name": "40S ribosomal protein S10",
                    "type": "synonym"
                },
                {
                    "name": "small ribosomal subunit protein eS10",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rps10l6",
                    "type": "recommended"
                },
                {
                    "name": "Rps10",
                    "type": "recommended"
                },
                {
                    "name": "Rps10-ps20",
                    "type": "synonym"
                },
                {
                    "name": "Rps10-ps21",
                    "type": "synonym"
                },
                {
                    "name": "Rps10-ps22",
                    "type": "synonym"
                },
                {
                    "name": "Rps10l3",
                    "type": "synonym"
                },
                {
                    "name": "Rps10l5",
                    "type": "synonym"
                },
                {
                    "name": "Rps10l7",
                    "type": "synonym"
                },
                {
                    "name": "Rps10",
                    "type": "synonym"
                }
            ],
            "record_id": "P63326-1",
            "evidence": [
                {
                    "id": "0111884",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111884"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VB14-1",
            "uniprot_ac": "Q9VB14",
            "uniprot_id": "RS10A_DROME",
            "refseq_ac": "NP_651576",
            "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 eS10A",
                    "type": "recommended"
                },
                {
                    "name": "40S ribosomal protein S10a",
                    "type": "synonym"
                },
                {
                    "name": "CG12275-PA",
                    "type": "synonym"
                },
                {
                    "name": "RpS10a-PA",
                    "type": "synonym"
                },
                {
                    "name": "ribosomal protein S10a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RpS10a",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:LD32148",
                    "type": "synonym"
                },
                {
                    "name": "CG12275",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG12275",
                    "type": "synonym"
                },
                {
                    "name": "RpS10a",
                    "type": "synonym"
                },
                {
                    "name": "RpS10",
                    "type": "synonym"
                },
                {
                    "name": "S10e",
                    "type": "synonym"
                },
                {
                    "name": "S10",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VB14-1",
            "evidence": [
                {
                    "id": "0111884",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111884"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VWG3-1",
            "uniprot_ac": "Q9VWG3",
            "uniprot_id": "RS10B_DROME",
            "refseq_ac": "NP_001245758",
            "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 eS10B",
                    "type": "recommended"
                },
                {
                    "name": "40S ribosomal protein S10b",
                    "type": "synonym"
                },
                {
                    "name": "CG14206-PD",
                    "type": "synonym"
                },
                {
                    "name": "Minute-n",
                    "type": "synonym"
                },
                {
                    "name": "RpS10b-PD",
                    "type": "synonym"
                },
                {
                    "name": "lethal (1) G0493",
                    "type": "synonym"
                },
                {
                    "name": "minute (1) 18C",
                    "type": "synonym"
                },
                {
                    "name": "ribosomal protein S10b, isoform D",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RpS10b",
                    "type": "recommended"
                },
                {
                    "name": "CG14206",
                    "type": "synonym"
                },
                {
                    "name": "CT33819",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG14206",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG14206",
                    "type": "synonym"
                },
                {
                    "name": "GM19176",
                    "type": "synonym"
                },
                {
                    "name": "M(1)18C",
                    "type": "synonym"
                },
                {
                    "name": "M(1)36f",
                    "type": "synonym"
                },
                {
                    "name": "M(1)n",
                    "type": "synonym"
                },
                {
                    "name": "M[[n]]",
                    "type": "synonym"
                },
                {
                    "name": "Rp S10 b",
                    "type": "synonym"
                },
                {
                    "name": "RpS10b",
                    "type": "synonym"
                },
                {
                    "name": "RpS10",
                    "type": "synonym"
                },
                {
                    "name": "S10b",
                    "type": "synonym"
                },
                {
                    "name": "i3",
                    "type": "synonym"
                },
                {
                    "name": "i73",
                    "type": "synonym"
                },
                {
                    "name": "l(1)G0493",
                    "type": "synonym"
                },
                {
                    "name": "l(1)carot13",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VWG3-1",
            "evidence": [
                {
                    "id": "0111884",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111884"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111884"
}
