{
    "disease_id": "DOID:0111878",
    "recommended_name": {
        "id": "DOID:0111878",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111878",
        "name": "Diamond-Blackfan anemia 7",
        "description": "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL11 gene on chromosome 1p36.11."
    },
    "synonyms": [
        {
            "id": "DOID:0111878",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111878",
            "name": "DBA7",
            "description": ""
        },
        {
            "id": "DOID:0111878",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111878",
            "name": "RPL11-related Diamond-Blackfan anemia",
            "description": ""
        },
        {
            "id": "MONDO:0012938",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012938",
            "name": "Diamond-Blackfan anemia 7",
            "description": "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL11 gene."
        },
        {
            "id": "MONDO:0012938",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012938",
            "name": "Diamond-Blackfan Anaemia type 7",
            "description": ""
        },
        {
            "id": "MONDO:0012938",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012938",
            "name": "Diamond-Blackfan Anemia type 7",
            "description": ""
        },
        {
            "id": "MONDO:0012938",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012938",
            "name": "Diamond-Blackfan anaemia caused by mutation in RPL11",
            "description": ""
        },
        {
            "id": "MONDO:0012938",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012938",
            "name": "Diamond-Blackfan anemia 7",
            "description": ""
        },
        {
            "id": "MONDO:0012938",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012938",
            "name": "Diamond-Blackfan anemia caused by mutation in RPL11",
            "description": ""
        },
        {
            "id": "MONDO:0012938",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012938",
            "name": "RPL11 Diamond-Blackfan anaemia",
            "description": ""
        },
        {
            "id": "MONDO:0012938",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012938",
            "name": "RPL11 Diamond-Blackfan anemia",
            "description": ""
        },
        {
            "id": "MONDO:0012938",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012938",
            "name": "DBA7",
            "description": ""
        },
        {
            "id": "MIM:612562",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612562",
            "name": "Diamond-Blackfan anemia 7",
            "description": "Diamond-Blackfan anemia 7"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111878"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111878",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111878",
            "categories": []
        },
        {
            "id": "MONDO:0012938",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012938",
            "categories": []
        },
        {
            "id": "MIM:612562",
            "database": "MIM",
            "url": "https://www.omim.org/entry/612562",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9CXW4-1",
            "uniprot_ac": "Q9CXW4",
            "uniprot_id": "RL11_MOUSE",
            "refseq_ac": "NP_080195",
            "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 uL5",
                    "type": "recommended"
                },
                {
                    "name": "60S ribosomal protein L11",
                    "type": "synonym"
                },
                {
                    "name": "large ribosomal subunit protein uL5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rpl11",
                    "type": "recommended"
                },
                {
                    "name": "2010203J19Rik",
                    "type": "synonym"
                },
                {
                    "name": "Rpl11",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9CXW4-1",
            "evidence": [
                {
                    "id": "0111878",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111878"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P62913-1",
            "uniprot_ac": "P62913",
            "uniprot_id": "RL11_HUMAN",
            "refseq_ac": "NP_000966",
            "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 uL5",
                    "type": "recommended"
                },
                {
                    "name": "60S ribosomal protein L11",
                    "type": "synonym"
                },
                {
                    "name": "CLL-associated antigen KW-12",
                    "type": "synonym"
                },
                {
                    "name": "cell growth-inhibiting protein 34",
                    "type": "synonym"
                },
                {
                    "name": "large ribosomal subunit protein uL5 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "large ribosomal subunit protein uL5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RPL11",
                    "type": "recommended"
                },
                {
                    "name": "DBA7",
                    "type": "synonym"
                },
                {
                    "name": "GIG34",
                    "type": "synonym"
                },
                {
                    "name": "L11",
                    "type": "synonym"
                },
                {
                    "name": "RPL11",
                    "type": "synonym"
                },
                {
                    "name": "uL5",
                    "type": "synonym"
                }
            ],
            "record_id": "P62913-1",
            "evidence": [
                {
                    "id": "612562",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/612562"
                },
                {
                    "id": "0111878",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111878"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q3E757-1",
            "uniprot_ac": "Q3E757",
            "uniprot_id": "RL11B_YEAST",
            "refseq_ac": "NP_011599",
            "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 uL5B",
                    "type": "recommended"
                },
                {
                    "name": "60S ribosomal protein L11-B",
                    "type": "synonym"
                },
                {
                    "name": "60S ribosomal protein uL5 RPL11B",
                    "type": "synonym"
                },
                {
                    "name": "L16",
                    "type": "synonym"
                },
                {
                    "name": "RP39",
                    "type": "synonym"
                },
                {
                    "name": "YL22",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RPL11B",
                    "type": "recommended"
                },
                {
                    "name": "RP39B",
                    "type": "synonym"
                },
                {
                    "name": "RPL11B",
                    "type": "synonym"
                },
                {
                    "name": "RPL16B",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3E757-1",
            "evidence": [
                {
                    "id": "0111878",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111878"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P0C0W9-1",
            "uniprot_ac": "P0C0W9",
            "uniprot_id": "RL11A_YEAST",
            "refseq_ac": "NP_015427",
            "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 uL5A",
                    "type": "recommended"
                },
                {
                    "name": "60S ribosomal protein L11-A",
                    "type": "synonym"
                },
                {
                    "name": "60S ribosomal protein uL5 RPL11A",
                    "type": "synonym"
                },
                {
                    "name": "L16",
                    "type": "synonym"
                },
                {
                    "name": "RP39",
                    "type": "synonym"
                },
                {
                    "name": "YL22",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RPL11A",
                    "type": "recommended"
                },
                {
                    "name": "P8283.14",
                    "type": "synonym"
                },
                {
                    "name": "RP39A",
                    "type": "synonym"
                },
                {
                    "name": "RPL11A",
                    "type": "synonym"
                },
                {
                    "name": "RPL16A",
                    "type": "synonym"
                }
            ],
            "record_id": "P0C0W9-1",
            "evidence": [
                {
                    "id": "0111878",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111878"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P62914-1",
            "uniprot_ac": "P62914",
            "uniprot_id": "RL11_RAT",
            "refseq_ac": "XP_006239286",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Large ribosomal subunit protein uL5",
                    "type": "recommended"
                },
                {
                    "name": "60S ribosomal protein L11",
                    "type": "synonym"
                },
                {
                    "name": "large ribosomal subunit protein uL5 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rpl11",
                    "type": "recommended"
                },
                {
                    "name": "Rpl11",
                    "type": "synonym"
                }
            ],
            "record_id": "P62914-1",
            "evidence": [
                {
                    "id": "0111878",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111878"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P46222-1",
            "uniprot_ac": "P46222",
            "uniprot_id": "RL11_DROME",
            "refseq_ac": "NP_001286614",
            "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 uL5",
                    "type": "recommended"
                },
                {
                    "name": "60S ribosomal protein L11",
                    "type": "synonym"
                },
                {
                    "name": "CG7726-PB",
                    "type": "synonym"
                },
                {
                    "name": "RpL11-PB",
                    "type": "synonym"
                },
                {
                    "name": "ribosomal protein DL11",
                    "type": "synonym"
                },
                {
                    "name": "ribosomal protein L11, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RpL11",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:LD17235",
                    "type": "synonym"
                },
                {
                    "name": "CG7726",
                    "type": "synonym"
                },
                {
                    "name": "DL11",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7726",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG7726",
                    "type": "synonym"
                },
                {
                    "name": "EST A",
                    "type": "synonym"
                },
                {
                    "name": "L11",
                    "type": "synonym"
                },
                {
                    "name": "L5",
                    "type": "synonym"
                },
                {
                    "name": "RPL11A",
                    "type": "synonym"
                },
                {
                    "name": "RPL11",
                    "type": "synonym"
                },
                {
                    "name": "Rp L11",
                    "type": "synonym"
                },
                {
                    "name": "RpL11",
                    "type": "synonym"
                },
                {
                    "name": "chr2R:14957112..14957299",
                    "type": "synonym"
                },
                {
                    "name": "l(2)k16914",
                    "type": "synonym"
                }
            ],
            "record_id": "P46222-1",
            "evidence": [
                {
                    "id": "0111878",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111878"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111878"
}