{
    "disease_id": "DOID:0111892",
    "recommended_name": {
        "id": "DOID:0111892",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111892",
        "name": "Diamond-Blackfan anemia 11",
        "description": "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL26 gene on chromosome 17p13.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111892",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111892",
            "name": "DBA11",
            "description": ""
        },
        {
            "id": "DOID:0111892",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111892",
            "name": "RPL26-related Diamond-Blackfan anemia",
            "description": ""
        },
        {
            "id": "MONDO:0013964",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013964",
            "name": "Diamond-Blackfan anemia 11",
            "description": "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL26 gene."
        },
        {
            "id": "MONDO:0013964",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013964",
            "name": "Diamond-Blackfan Anaemia type 11",
            "description": ""
        },
        {
            "id": "MONDO:0013964",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013964",
            "name": "Diamond-Blackfan Anemia type 11",
            "description": ""
        },
        {
            "id": "MONDO:0013964",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013964",
            "name": "Diamond-Blackfan anaemia caused by mutation in RPL26",
            "description": ""
        },
        {
            "id": "MONDO:0013964",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013964",
            "name": "Diamond-Blackfan anemia 11",
            "description": ""
        },
        {
            "id": "MONDO:0013964",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013964",
            "name": "Diamond-Blackfan anemia caused by mutation in RPL26",
            "description": ""
        },
        {
            "id": "MONDO:0013964",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013964",
            "name": "RPL26 Diamond-Blackfan anaemia",
            "description": ""
        },
        {
            "id": "MONDO:0013964",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013964",
            "name": "RPL26 Diamond-Blackfan anemia",
            "description": ""
        },
        {
            "id": "MONDO:0013964",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013964",
            "name": "DBA11",
            "description": ""
        },
        {
            "id": "MIM:614900",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614900",
            "name": "Diamond-Blackfan anemia 11",
            "description": "Diamond-Blackfan anemia 11"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111892"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111892",
            "database": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111892",
            "categories": []
        },
        {
            "id": "MONDO:0013964",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013964",
            "categories": []
        },
        {
            "id": "MIM:614900",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614900",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9VVU2-1",
            "uniprot_ac": "Q9VVU2",
            "uniprot_id": "Q9VVU2_DROME",
            "refseq_ac": "NP_001262025",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG6846-PB; RpL26-PB",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "GEO07453p1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "RE17611p",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Ribosomal protein L26, isoform A",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Ribosomal protein L26, isoform B",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Ribosomal protein L26, isoform C",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "ribosomal protein L26, isoform B",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RpL26",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "CG6846; Dmel\\CG6846; L24; L26; lincRNA.S5499; Rp L26; RPL26",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "CG6846",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6846",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG6846",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "L24",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "L26",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "RPL26",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Rp L26",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "RpL26",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "lincRNA.S5499",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0111892",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111892"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P61255-1",
            "uniprot_ac": "P61255",
            "uniprot_id": "RL26_MOUSE",
            "refseq_ac": "NP_033106",
            "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 uL24",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "60S ribosomal protein L26; silica-induced gene 20 protein",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "60S ribosomal protein L26",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "SIG-20",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Silica-induced gene 20 protein",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "large ribosomal subunit protein uL24",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rpl26",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Rpl26",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "SIG-20",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0111892",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111892"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P05743-1",
            "uniprot_ac": "P05743",
            "uniprot_id": "RL26A_YEAST",
            "refseq_ac": "NP_013448",
            "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 uL24A",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "60S ribosomal protein L26-A",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "L33",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "YL33",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "ribosomal 60S subunit protein L26A",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RPL26A",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "L8300.4",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "RPL26A",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "RPL26",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "RPL33A",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0111892",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111892"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P53221-1",
            "uniprot_ac": "P53221",
            "uniprot_id": "RL26B_YEAST",
            "refseq_ac": "NP_011548",
            "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 uL24B",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "60S ribosomal protein L26-B",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "L33",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "YL33",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "ribosomal 60S subunit protein L26B",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RPL26B",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "RPL26B",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "RPL33B",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0111892",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111892"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P61254-1",
            "uniprot_ac": "P61254",
            "uniprot_id": "RL26_HUMAN",
            "refseq_ac": "NP_000978",
            "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 uL24",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "60S ribosomal protein L26",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "60S ribosomal protein L26",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "large ribosomal subunit protein uL24",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RPL26",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "DBA11; L26; uL24",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "RPL26",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0111892",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111892"
                },
                {
                    "id": "614900",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614900"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7SXA1-1",
            "uniprot_ac": "Q7SXA1",
            "uniprot_id": "Q7SXA1_DANRE",
            "refseq_ac": "NP_998278",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "60S ribosomal protein L26",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "ATPase H+ transporting V0 subunit e1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Ribosomal protein L26",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Rpl26 protein",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "rpl26",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "atp6v0e1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "hm:zehn2026; wu:fa92f05; zgc:66190",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "hm:zehn2026",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "rpl26",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "wu:fa92f05",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "zgc:66190",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0111892",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111892"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4AE42-1",
            "uniprot_ac": "D4AE42",
            "uniprot_id": "D4AE42_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ribosomal protein L26, pseudogene 1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rpl26-ps1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                }
            ],
            "evidence": [
                {
                    "id": "0111892",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111892"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P12749-1",
            "uniprot_ac": "P12749",
            "uniprot_id": "RL26_RAT",
            "refseq_ac": "",
            "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 uL24",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "60S ribosomal protein L26",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rpl26",
                    "resource": "UniProtKB",
                    "type": "recommended"
                }
            ],
            "evidence": [
                {
                    "id": "0111892",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111892"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111892"
}