{
    "disease_id": "DOID:0111881",
    "recommended_name": {
        "id": "DOID:0111881",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111881",
        "name": "Diamond-Blackfan anemia 8",
        "description": "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS7 gene on chromosome 2p25.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111881",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111881",
            "name": "DBA8",
            "description": ""
        },
        {
            "id": "DOID:0111881",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111881",
            "name": "RPS7-related Diamond-Blackfan anemia",
            "description": ""
        },
        {
            "id": "MONDO:0012939",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012939",
            "name": "Diamond-Blackfan anemia 8",
            "description": "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS7 gene."
        },
        {
            "id": "MONDO:0012939",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012939",
            "name": "Diamond-Blackfan Anaemia type 8",
            "description": ""
        },
        {
            "id": "MONDO:0012939",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012939",
            "name": "Diamond-Blackfan Anemia type 8",
            "description": ""
        },
        {
            "id": "MONDO:0012939",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012939",
            "name": "Diamond-Blackfan anaemia caused by mutation in RPS7",
            "description": ""
        },
        {
            "id": "MONDO:0012939",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012939",
            "name": "Diamond-Blackfan anemia 8",
            "description": ""
        },
        {
            "id": "MONDO:0012939",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012939",
            "name": "Diamond-Blackfan anemia caused by mutation in RPS7",
            "description": ""
        },
        {
            "id": "MONDO:0012939",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012939",
            "name": "RPS7 Diamond-Blackfan anaemia",
            "description": ""
        },
        {
            "id": "MONDO:0012939",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012939",
            "name": "RPS7 Diamond-Blackfan anemia",
            "description": ""
        },
        {
            "id": "MONDO:0012939",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012939",
            "name": "DBA8",
            "description": ""
        },
        {
            "id": "MIM:612563",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612563",
            "name": "Diamond-Blackfan anemia 8",
            "description": "Diamond-Blackfan anemia 8"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111881"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111881",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111881",
            "categories": []
        },
        {
            "id": "MONDO:0012939",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012939",
            "categories": []
        },
        {
            "id": "MIM:612563",
            "database": "MIM",
            "url": "https://www.omim.org/entry/612563",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P62084-1",
            "uniprot_ac": "P62084",
            "uniprot_id": "RS7_DANRE",
            "refseq_ac": "NP_957046",
            "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 eS7",
                    "type": "recommended"
                },
                {
                    "name": "40S ribosomal protein S7",
                    "type": "synonym"
                },
                {
                    "name": "small ribosomal subunit protein eS7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "rps7",
                    "type": "recommended"
                },
                {
                    "name": "rps7",
                    "type": "synonym"
                },
                {
                    "name": "zgc:73216",
                    "type": "synonym"
                }
            ],
            "record_id": "P62084-1",
            "evidence": [
                {
                    "id": "0111881",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111881"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P62082-1",
            "uniprot_ac": "P62082",
            "uniprot_id": "RS7_MOUSE",
            "refseq_ac": "NP_035430",
            "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 eS7",
                    "type": "recommended"
                },
                {
                    "name": "40S ribosomal protein S7",
                    "type": "synonym"
                },
                {
                    "name": "small ribosomal subunit protein eS7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rps7",
                    "type": "recommended"
                },
                {
                    "name": "Mtu",
                    "type": "synonym"
                },
                {
                    "name": "Rps7A",
                    "type": "synonym"
                },
                {
                    "name": "Rps7",
                    "type": "synonym"
                },
                {
                    "name": "S7",
                    "type": "synonym"
                }
            ],
            "record_id": "P62082-1",
            "evidence": [
                {
                    "id": "0111881",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111881"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P62081-1",
            "uniprot_ac": "P62081",
            "uniprot_id": "RS7_HUMAN",
            "refseq_ac": "NP_001002",
            "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 eS7",
                    "type": "recommended"
                },
                {
                    "name": "40S ribosomal protein S7",
                    "type": "synonym"
                },
                {
                    "name": "small ribosomal subunit protein eS7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RPS7",
                    "type": "recommended"
                },
                {
                    "name": "DBA8",
                    "type": "synonym"
                },
                {
                    "name": "RPS7",
                    "type": "synonym"
                },
                {
                    "name": "S7",
                    "type": "synonym"
                },
                {
                    "name": "eS7",
                    "type": "synonym"
                }
            ],
            "record_id": "P62081-1",
            "evidence": [
                {
                    "id": "612563",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/612563"
                },
                {
                    "id": "0111881",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111881"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P26786-1",
            "uniprot_ac": "P26786",
            "uniprot_id": "RS7A_YEAST",
            "refseq_ac": "NP_014739",
            "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 eS7A",
                    "type": "recommended"
                },
                {
                    "name": "40S ribosomal protein S7-A",
                    "type": "synonym"
                },
                {
                    "name": "40S ribosomal protein eS7 RPS7A",
                    "type": "synonym"
                },
                {
                    "name": "RP30",
                    "type": "synonym"
                },
                {
                    "name": "RP40",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RPS7A",
                    "type": "recommended"
                },
                {
                    "name": "RPS30",
                    "type": "synonym"
                },
                {
                    "name": "RPS7A",
                    "type": "synonym"
                },
                {
                    "name": "YOR3177W",
                    "type": "synonym"
                }
            ],
            "record_id": "P26786-1",
            "evidence": [
                {
                    "id": "0111881",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111881"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P48164-1",
            "uniprot_ac": "P48164",
            "uniprot_id": "RS7B_YEAST",
            "refseq_ac": "NP_014303",
            "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 eS7B",
                    "type": "recommended"
                },
                {
                    "name": "40S ribosomal protein S7-B",
                    "type": "synonym"
                },
                {
                    "name": "40S ribosomal protein eS7 RPS7B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RPS7B",
                    "type": "recommended"
                },
                {
                    "name": "N2212",
                    "type": "synonym"
                },
                {
                    "name": "RPS7B",
                    "type": "synonym"
                }
            ],
            "record_id": "P48164-1",
            "evidence": [
                {
                    "id": "0111881",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111881"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "M0R9M1-1",
            "uniprot_ac": "M0R9M1",
            "uniprot_id": "M0R9M1_RAT",
            "refseq_ac": "NP_001000737",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Olfactory receptor family 52 subfamily N member 1B",
                    "type": "synonym"
                },
                {
                    "name": "olfactory receptor 164",
                    "type": "synonym"
                },
                {
                    "name": "olfactory receptor 52N1-like",
                    "type": "synonym"
                },
                {
                    "name": "olfactory receptor Olr164",
                    "type": "synonym"
                },
                {
                    "name": "olfactory receptor gene Olr164",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Or52n1b",
                    "type": "recommended"
                },
                {
                    "name": "Olr164",
                    "type": "synonym"
                },
                {
                    "name": "Or52n1b",
                    "type": "synonym"
                }
            ],
            "record_id": "M0R9M1-1",
            "evidence": [
                {
                    "id": "0111881",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111881"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P62083-1",
            "uniprot_ac": "P62083",
            "uniprot_id": "RS7_RAT",
            "refseq_ac": "NP_113758",
            "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 eS7",
                    "type": "recommended"
                },
                {
                    "name": "40S ribosomal protein S7",
                    "type": "synonym"
                },
                {
                    "name": "S8",
                    "type": "synonym"
                },
                {
                    "name": "small ribosomal subunit protein eS7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Colec11",
                    "type": "recommended"
                },
                {
                    "name": "Rps7",
                    "type": "recommended"
                },
                {
                    "name": "Colec11",
                    "type": "synonym"
                },
                {
                    "name": "Rps7-ps23",
                    "type": "synonym"
                },
                {
                    "name": "Rps7",
                    "type": "synonym"
                }
            ],
            "record_id": "P62083-1",
            "evidence": [
                {
                    "id": "0111881",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111881"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VA91-1",
            "uniprot_ac": "Q9VA91",
            "uniprot_id": "RS7_DROME",
            "refseq_ac": "NP_651782",
            "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 eS7",
                    "type": "recommended"
                },
                {
                    "name": "40S ribosomal protein S7",
                    "type": "synonym"
                },
                {
                    "name": "CG1883-PA",
                    "type": "synonym"
                },
                {
                    "name": "RpS7-PA",
                    "type": "synonym"
                },
                {
                    "name": "ribosomal protein S7, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "ribosomal protein S7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RpS7",
                    "type": "recommended"
                },
                {
                    "name": "CG1883",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1883",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG1883",
                    "type": "synonym"
                },
                {
                    "name": "RpS7",
                    "type": "synonym"
                },
                {
                    "name": "S7e",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VA91-1",
            "evidence": [
                {
                    "id": "0111881",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111881"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111881"
}