{
    "disease_id": "DOID:0111879",
    "recommended_name": {
        "id": "DOID:0111879",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111879",
        "name": "Diamond-Blackfan anemia 6",
        "description": "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL5 gene on chromosome 1p22.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111879",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111879",
            "name": "DBA6",
            "description": ""
        },
        {
            "id": "DOID:0111879",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111879",
            "name": "RPL5-related Diamond-Blackfan anemia",
            "description": ""
        },
        {
            "id": "MONDO:0012937",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012937",
            "name": "Diamond-Blackfan anemia 6",
            "description": "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL5 gene."
        },
        {
            "id": "MONDO:0012937",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012937",
            "name": "Diamond-Blackfan Anaemia type 6",
            "description": ""
        },
        {
            "id": "MONDO:0012937",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012937",
            "name": "Diamond-Blackfan Anemia type 6",
            "description": ""
        },
        {
            "id": "MONDO:0012937",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012937",
            "name": "Diamond-Blackfan anaemia caused by mutation in RPL5",
            "description": ""
        },
        {
            "id": "MONDO:0012937",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012937",
            "name": "Diamond-Blackfan anemia 6",
            "description": ""
        },
        {
            "id": "MONDO:0012937",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012937",
            "name": "Diamond-Blackfan anemia caused by mutation in RPL5",
            "description": ""
        },
        {
            "id": "MONDO:0012937",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012937",
            "name": "RPL5 Diamond-Blackfan anaemia",
            "description": ""
        },
        {
            "id": "MONDO:0012937",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012937",
            "name": "RPL5 Diamond-Blackfan anemia",
            "description": ""
        },
        {
            "id": "MONDO:0012937",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012937",
            "name": "DBA6",
            "description": ""
        },
        {
            "id": "MIM:612561",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612561",
            "name": "Diamond-Blackfan anemia 6",
            "description": "Diamond-Blackfan anemia 6"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111879"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111879",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111879",
            "categories": []
        },
        {
            "id": "MONDO:0012937",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012937",
            "categories": []
        },
        {
            "id": "MIM:612561",
            "database": "MIM",
            "url": "https://www.omim.org/entry/612561",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P47962-1",
            "uniprot_ac": "P47962",
            "uniprot_id": "RL5_MOUSE",
            "refseq_ac": "NP_058676",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Large ribosomal subunit protein uL18",
                    "type": "recommended"
                },
                {
                    "name": "60S ribosomal protein L5",
                    "type": "synonym"
                },
                {
                    "name": "large ribosomal subunit protein uL18",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rpl5",
                    "type": "recommended"
                },
                {
                    "name": "Rpl5",
                    "type": "synonym"
                },
                {
                    "name": "Ska23",
                    "type": "synonym"
                },
                {
                    "name": "Ska<m23Jus>",
                    "type": "synonym"
                },
                {
                    "name": "Skax23",
                    "type": "synonym"
                },
                {
                    "name": "U21RNA",
                    "type": "synonym"
                }
            ],
            "record_id": "P47962-1",
            "evidence": [
                {
                    "id": "0111879",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111879"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P46777-1",
            "uniprot_ac": "P46777",
            "uniprot_id": "RL5_HUMAN",
            "refseq_ac": "NP_000960",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Large ribosomal subunit protein uL18",
                    "type": "recommended"
                },
                {
                    "name": "60S ribosomal protein L5",
                    "type": "synonym"
                },
                {
                    "name": "large ribosomal subunit protein uL18",
                    "type": "synonym"
                },
                {
                    "name": "protein phosphatase 1, regulatory subunit 135",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RPL5",
                    "type": "recommended"
                },
                {
                    "name": "L5",
                    "type": "synonym"
                },
                {
                    "name": "MSTP030",
                    "type": "synonym"
                },
                {
                    "name": "PPP1R135",
                    "type": "synonym"
                },
                {
                    "name": "RPL5",
                    "type": "synonym"
                },
                {
                    "name": "uL18",
                    "type": "synonym"
                }
            ],
            "record_id": "P46777-1",
            "evidence": [
                {
                    "id": "612561",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/612561"
                },
                {
                    "id": "0111879",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111879"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P26321-1",
            "uniprot_ac": "P26321",
            "uniprot_id": "RL5_YEAST",
            "refseq_ac": "NP_015194",
            "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": "Large ribosomal subunit protein uL18",
                    "type": "recommended"
                },
                {
                    "name": "60S ribosomal protein L5",
                    "type": "synonym"
                },
                {
                    "name": "60S ribosomal protein uL18 RPL5",
                    "type": "synonym"
                },
                {
                    "name": "L1a",
                    "type": "synonym"
                },
                {
                    "name": "L1",
                    "type": "synonym"
                },
                {
                    "name": "Ribosomal 5S RNA-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "YL3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RPL5",
                    "type": "recommended"
                },
                {
                    "name": "LPI14W",
                    "type": "synonym"
                },
                {
                    "name": "LPI14",
                    "type": "synonym"
                },
                {
                    "name": "RPL1A",
                    "type": "synonym"
                },
                {
                    "name": "RPL1",
                    "type": "synonym"
                },
                {
                    "name": "RPL5",
                    "type": "synonym"
                }
            ],
            "record_id": "P26321-1",
            "evidence": [
                {
                    "id": "0111879",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111879"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P09895-1",
            "uniprot_ac": "P09895",
            "uniprot_id": "RL5_RAT",
            "refseq_ac": "NP_112361",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Large ribosomal subunit protein uL18",
                    "type": "recommended"
                },
                {
                    "name": "60S ribosomal protein L5",
                    "type": "synonym"
                },
                {
                    "name": "large ribosomal subunit protein uL18",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rpl5",
                    "type": "recommended"
                },
                {
                    "name": "Rpl5",
                    "type": "synonym"
                }
            ],
            "record_id": "P09895-1",
            "evidence": [
                {
                    "id": "0111879",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111879"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W5R8-1",
            "uniprot_ac": "Q9W5R8",
            "uniprot_id": "RL5_DROME",
            "refseq_ac": "NP_001036387",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Large ribosomal subunit protein uL18",
                    "type": "recommended"
                },
                {
                    "name": "60S ribosomal protein L5",
                    "type": "synonym"
                },
                {
                    "name": "CG17489-PA",
                    "type": "synonym"
                },
                {
                    "name": "RpL5-PA",
                    "type": "synonym"
                },
                {
                    "name": "enhancer on chromosome 2, complementation group d",
                    "type": "synonym"
                },
                {
                    "name": "ribosomal protein L5, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "ribosomal protein L5",
                    "type": "synonym"
                },
                {
                    "name": "yippee interacting protein 6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RpL5",
                    "type": "recommended"
                },
                {
                    "name": "CG17489",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG17489",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG17489",
                    "type": "synonym"
                },
                {
                    "name": "E-2d",
                    "type": "synonym"
                },
                {
                    "name": "L18",
                    "type": "synonym"
                },
                {
                    "name": "L5",
                    "type": "synonym"
                },
                {
                    "name": "M(2)40B",
                    "type": "synonym"
                },
                {
                    "name": "RPL5",
                    "type": "synonym"
                },
                {
                    "name": "Rp L5",
                    "type": "synonym"
                },
                {
                    "name": "RpL5",
                    "type": "synonym"
                },
                {
                    "name": "Rpl5",
                    "type": "synonym"
                },
                {
                    "name": "dRPL5",
                    "type": "synonym"
                },
                {
                    "name": "yip6",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W5R8-1",
            "evidence": [
                {
                    "id": "0111879",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111879"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111879"
}