{
    "disease_id": "DOID:0111893",
    "recommended_name": {
        "id": "DOID:0111893",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111893",
        "name": "Diamond-Blackfan anemia 16",
        "description": "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL27 gene on chromosome 17q21.31."
    },
    "synonyms": [
        {
            "id": "DOID:0111893",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111893",
            "name": "DBA16",
            "description": ""
        },
        {
            "id": "DOID:0111893",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111893",
            "name": "RPL27-related Diamond-Blackfan anemia",
            "description": ""
        },
        {
            "id": "MONDO:0044309",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044309",
            "name": "Diamond-Blackfan anemia 16",
            "description": ""
        },
        {
            "id": "MONDO:0044309",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044309",
            "name": "Diamond-Blackfan anemia 16",
            "description": ""
        },
        {
            "id": "MONDO:0044309",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044309",
            "name": "DBA16",
            "description": ""
        },
        {
            "id": "MIM:617408",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617408",
            "name": "Diamond-Blackfan anemia 16",
            "description": "Diamond-Blackfan anemia 16"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111893"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111893",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111893",
            "categories": []
        },
        {
            "id": "MONDO:0044309",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044309",
            "categories": []
        },
        {
            "id": "MIM:617408",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617408",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q7ZV82-1",
            "uniprot_ac": "Q7ZV82",
            "uniprot_id": "RL27_DANRE",
            "refseq_ac": "NP_956018",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Large ribosomal subunit protein eL27",
                    "type": "recommended"
                },
                {
                    "name": "60S ribosomal protein L27",
                    "type": "synonym"
                },
                {
                    "name": "large ribosomal subunit protein eL27",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "rpl27",
                    "type": "recommended"
                },
                {
                    "name": "fc93a08",
                    "type": "synonym"
                },
                {
                    "name": "rpl27",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc93a08",
                    "type": "synonym"
                },
                {
                    "name": "zgc:56171",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7ZV82-1",
            "evidence": [
                {
                    "id": "0111893",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111893"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P61358-1",
            "uniprot_ac": "P61358",
            "uniprot_id": "RL27_MOUSE",
            "refseq_ac": "NP_035419",
            "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 eL27",
                    "type": "recommended"
                },
                {
                    "name": "60S ribosomal protein L27",
                    "type": "synonym"
                },
                {
                    "name": "large ribosomal subunit protein eL27",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rpl27",
                    "type": "recommended"
                },
                {
                    "name": "Rpl27",
                    "type": "synonym"
                }
            ],
            "record_id": "P61358-1",
            "evidence": [
                {
                    "id": "0111893",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111893"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P61353-1",
            "uniprot_ac": "P61353",
            "uniprot_id": "RL27_HUMAN",
            "refseq_ac": "NP_000979",
            "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 eL27",
                    "type": "recommended"
                },
                {
                    "name": "60S ribosomal protein L27",
                    "type": "synonym"
                },
                {
                    "name": "large ribosomal subunit protein eL27",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RPL27",
                    "type": "recommended"
                },
                {
                    "name": "DBA16",
                    "type": "synonym"
                },
                {
                    "name": "L27",
                    "type": "synonym"
                },
                {
                    "name": "RPL27",
                    "type": "synonym"
                },
                {
                    "name": "eL27",
                    "type": "synonym"
                }
            ],
            "record_id": "P61353-1",
            "evidence": [
                {
                    "id": "617408",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617408"
                },
                {
                    "id": "0111893",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111893"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P0C2H6-1",
            "uniprot_ac": "P0C2H6",
            "uniprot_id": "RL27A_YEAST",
            "refseq_ac": "NP_011874",
            "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 eL27A",
                    "type": "recommended"
                },
                {
                    "name": "60S ribosomal protein L27-A",
                    "type": "synonym"
                },
                {
                    "name": "60S ribosomal protein eL27 RPL27A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RPL27A",
                    "type": "recommended"
                },
                {
                    "name": "RPL27A",
                    "type": "synonym"
                },
                {
                    "name": "RPL27",
                    "type": "synonym"
                }
            ],
            "record_id": "P0C2H6-1",
            "evidence": [
                {
                    "id": "0111893",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111893"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P0C2H7-1",
            "uniprot_ac": "P0C2H7",
            "uniprot_id": "RL27B_YEAST",
            "refseq_ac": "NP_010759",
            "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 eL27B",
                    "type": "recommended"
                },
                {
                    "name": "60S ribosomal protein L27-B",
                    "type": "synonym"
                },
                {
                    "name": "60S ribosomal protein eL27 RPL27B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RPL27B",
                    "type": "recommended"
                },
                {
                    "name": "D8035.14",
                    "type": "synonym"
                },
                {
                    "name": "RPL27B",
                    "type": "synonym"
                },
                {
                    "name": "RPL27",
                    "type": "synonym"
                }
            ],
            "record_id": "P0C2H7-1",
            "evidence": [
                {
                    "id": "0111893",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111893"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P61354-1",
            "uniprot_ac": "P61354",
            "uniprot_id": "RL27_RAT",
            "refseq_ac": "NP_071959",
            "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 eL27",
                    "type": "recommended"
                },
                {
                    "name": "60S ribosomal protein L27",
                    "type": "synonym"
                },
                {
                    "name": "large ribosomal subunit protein eL27",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rpl27",
                    "type": "recommended"
                },
                {
                    "name": "Rpl27",
                    "type": "synonym"
                }
            ],
            "record_id": "P61354-1",
            "evidence": [
                {
                    "id": "0111893",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111893"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VBN5-1",
            "uniprot_ac": "Q9VBN5",
            "uniprot_id": "Q9VBN5_DROME",
            "refseq_ac": "NP_001262966",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "60S ribosomal protein L27",
                    "type": "recommended"
                },
                {
                    "name": "CG4759-PB",
                    "type": "synonym"
                },
                {
                    "name": "RpL27-PB",
                    "type": "synonym"
                },
                {
                    "name": "ribosomal protein L27, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RpL27",
                    "type": "recommended"
                },
                {
                    "name": "CG4759",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4759",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4759",
                    "type": "synonym"
                },
                {
                    "name": "L27e",
                    "type": "synonym"
                },
                {
                    "name": "RPL27",
                    "type": "synonym"
                },
                {
                    "name": "RpL27e",
                    "type": "synonym"
                },
                {
                    "name": "RpL27",
                    "type": "synonym"
                },
                {
                    "name": "chr3R:21510055..21510241",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VBN5-1",
            "evidence": [
                {
                    "id": "0111893",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111893"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111893"
}