{
    "disease_id": "DOID:0111896",
    "recommended_name": {
        "id": "DOID:0111896",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111896",
        "name": "Diamond-Blackfan anemia 18",
        "description": "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL18 gene on chromosome 19q13.33."
    },
    "synonyms": [
        {
            "id": "DOID:0111896",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111896",
            "name": "DBA18",
            "description": ""
        },
        {
            "id": "DOID:0111896",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111896",
            "name": "RPL18-related Diamond-Blackfan anemia",
            "description": ""
        },
        {
            "id": "MONDO:0032668",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032668",
            "name": "Diamond-Blackfan anemia 18",
            "description": ""
        },
        {
            "id": "MONDO:0032668",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032668",
            "name": "DBA18",
            "description": ""
        },
        {
            "id": "MIM:618310",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618310",
            "name": "Diamond-Blackfan anemia 18",
            "description": "Diamond-Blackfan anemia 18"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111896"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111896",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111896",
            "categories": []
        },
        {
            "id": "MONDO:0032668",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032668",
            "categories": []
        },
        {
            "id": "MIM:618310",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618310",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P35980-1",
            "uniprot_ac": "P35980",
            "uniprot_id": "RL18_MOUSE",
            "refseq_ac": "NP_033103",
            "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 eL18",
                    "type": "recommended"
                },
                {
                    "name": "60S ribosomal protein L18",
                    "type": "synonym"
                },
                {
                    "name": "large ribosomal subunit protein eL18 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "large ribosomal subunit protein eL18",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rpl18",
                    "type": "recommended"
                },
                {
                    "name": "L18",
                    "type": "synonym"
                },
                {
                    "name": "Rpl18a",
                    "type": "synonym"
                },
                {
                    "name": "Rpl18",
                    "type": "synonym"
                }
            ],
            "record_id": "P35980-1",
            "evidence": [
                {
                    "id": "0111896",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111896"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q07020-1",
            "uniprot_ac": "Q07020",
            "uniprot_id": "RL18_HUMAN",
            "refseq_ac": "NP_000970",
            "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 eL18",
                    "type": "recommended"
                },
                {
                    "name": "60S ribosomal protein L18",
                    "type": "synonym"
                },
                {
                    "name": "large ribosomal subunit protein eL18 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "large ribosomal subunit protein eL18",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RPL18",
                    "type": "recommended"
                },
                {
                    "name": "DBA18",
                    "type": "synonym"
                },
                {
                    "name": "L18",
                    "type": "synonym"
                },
                {
                    "name": "RPL18",
                    "type": "synonym"
                },
                {
                    "name": "eL18",
                    "type": "synonym"
                }
            ],
            "record_id": "Q07020-1",
            "evidence": [
                {
                    "id": "618310",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618310"
                },
                {
                    "id": "0111896",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111896"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P0CX49-1",
            "uniprot_ac": "P0CX49",
            "uniprot_id": "RL18A_YEAST",
            "refseq_ac": "NP_014521",
            "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 eL18A",
                    "type": "recommended"
                },
                {
                    "name": "60S ribosomal protein L18-A",
                    "type": "synonym"
                },
                {
                    "name": "60S ribosomal protein eL18 RPL18A",
                    "type": "synonym"
                },
                {
                    "name": "RP28",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RPL18A",
                    "type": "recommended"
                },
                {
                    "name": "RP28A",
                    "type": "synonym"
                },
                {
                    "name": "RPL18A",
                    "type": "synonym"
                }
            ],
            "record_id": "P0CX49-1",
            "evidence": [
                {
                    "id": "0111896",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111896"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P0CX50-1",
            "uniprot_ac": "P0CX50",
            "uniprot_id": "RL18B_YEAST",
            "refseq_ac": "NP_014098",
            "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 eL18B",
                    "type": "recommended"
                },
                {
                    "name": "60S ribosomal protein L18-B",
                    "type": "synonym"
                },
                {
                    "name": "60S ribosomal protein eL18 RPL18B",
                    "type": "synonym"
                },
                {
                    "name": "RP28",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RPL18B",
                    "type": "recommended"
                },
                {
                    "name": "N0425",
                    "type": "synonym"
                },
                {
                    "name": "RP28B",
                    "type": "synonym"
                },
                {
                    "name": "RPL18B",
                    "type": "synonym"
                }
            ],
            "record_id": "P0CX50-1",
            "evidence": [
                {
                    "id": "0111896",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111896"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P12001-1",
            "uniprot_ac": "P12001",
            "uniprot_id": "RL18_RAT",
            "refseq_ac": "NP_112364",
            "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 eL18",
                    "type": "recommended"
                },
                {
                    "name": "60S ribosomal protein L18",
                    "type": "synonym"
                },
                {
                    "name": "large ribosomal subunit protein eL18",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rpl18",
                    "type": "recommended"
                },
                {
                    "name": "Rpl18",
                    "type": "synonym"
                }
            ],
            "record_id": "P12001-1",
            "evidence": [
                {
                    "id": "0111896",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111896"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VS34-1",
            "uniprot_ac": "Q9VS34",
            "uniprot_id": "RL18_DROME",
            "refseq_ac": "NP_001261501",
            "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 eL18",
                    "type": "recommended"
                },
                {
                    "name": "60S ribosomal protein L18",
                    "type": "synonym"
                },
                {
                    "name": "CG8615-PB",
                    "type": "synonym"
                },
                {
                    "name": "RpL18-PB",
                    "type": "synonym"
                },
                {
                    "name": "ribosomal protein L18, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RpL18",
                    "type": "recommended"
                },
                {
                    "name": "CG8615",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8615",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG8615",
                    "type": "synonym"
                },
                {
                    "name": "L18e",
                    "type": "synonym"
                },
                {
                    "name": "Rp L18",
                    "type": "synonym"
                },
                {
                    "name": "RpL18e",
                    "type": "synonym"
                },
                {
                    "name": "RpL18",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VS34-1",
            "evidence": [
                {
                    "id": "0111896",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111896"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111896"
}