{
    "disease_id": "DOID:0111882",
    "recommended_name": {
        "id": "DOID:0111882",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111882",
        "name": "Diamond-Blackfan anemia 12",
        "description": "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL15 gene on chromosome 3p24.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111882",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111882",
            "name": "DBA12",
            "description": ""
        },
        {
            "id": "DOID:0111882",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111882",
            "name": "RPL15-related Diamond-Blackfan anemia",
            "description": ""
        },
        {
            "id": "MONDO:0014245",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014245",
            "name": "Diamond-Blackfan anemia 12",
            "description": "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL15 gene."
        },
        {
            "id": "MONDO:0014245",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014245",
            "name": "Diamond-Blackfan Anaemia type 12",
            "description": ""
        },
        {
            "id": "MONDO:0014245",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014245",
            "name": "Diamond-Blackfan Anemia type 12",
            "description": ""
        },
        {
            "id": "MONDO:0014245",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014245",
            "name": "Diamond-Blackfan anaemia caused by mutation in RPL15",
            "description": ""
        },
        {
            "id": "MONDO:0014245",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014245",
            "name": "Diamond-Blackfan anemia 12",
            "description": ""
        },
        {
            "id": "MONDO:0014245",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014245",
            "name": "Diamond-Blackfan anemia caused by mutation in RPL15",
            "description": ""
        },
        {
            "id": "MONDO:0014245",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014245",
            "name": "RPL15 Diamond-Blackfan anaemia",
            "description": ""
        },
        {
            "id": "MONDO:0014245",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014245",
            "name": "RPL15 Diamond-Blackfan anemia",
            "description": ""
        },
        {
            "id": "MONDO:0014245",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014245",
            "name": "DBA12",
            "description": ""
        },
        {
            "id": "MIM:615550",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615550",
            "name": "Diamond-Blackfan anemia 12",
            "description": "Diamond-Blackfan anemia 12"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111882"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111882",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111882",
            "categories": []
        },
        {
            "id": "MONDO:0014245",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014245",
            "categories": []
        },
        {
            "id": "MIM:615550",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615550",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9CZM2-1",
            "uniprot_ac": "Q9CZM2",
            "uniprot_id": "RL15_MOUSE",
            "refseq_ac": "NP_079862",
            "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 eL15",
                    "type": "recommended"
                },
                {
                    "name": "60S ribosomal protein L15",
                    "type": "synonym"
                },
                {
                    "name": "large ribosomal subunit protein eL15",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rpl15",
                    "type": "recommended"
                },
                {
                    "name": "2510008H07Rik",
                    "type": "synonym"
                },
                {
                    "name": "Rpl15",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9CZM2-1",
            "evidence": [
                {
                    "id": "0111882",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111882"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P61313-1",
            "uniprot_ac": "P61313",
            "uniprot_id": "RL15_HUMAN",
            "refseq_ac": "NP_001240308",
            "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 eL15",
                    "type": "recommended"
                },
                {
                    "name": "60S ribosomal protein L15",
                    "type": "synonym"
                },
                {
                    "name": "large ribosomal subunit protein eL15 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "large ribosomal subunit protein eL15",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RPL15",
                    "type": "recommended"
                },
                {
                    "name": "DBA12",
                    "type": "synonym"
                },
                {
                    "name": "EC45",
                    "type": "synonym"
                },
                {
                    "name": "L15",
                    "type": "synonym"
                },
                {
                    "name": "RPL10",
                    "type": "synonym"
                },
                {
                    "name": "RPL15",
                    "type": "synonym"
                },
                {
                    "name": "RPLY10",
                    "type": "synonym"
                },
                {
                    "name": "RPYL10",
                    "type": "synonym"
                },
                {
                    "name": "TCBAP0781",
                    "type": "synonym"
                },
                {
                    "name": "eL15",
                    "type": "synonym"
                }
            ],
            "record_id": "P61313-1",
            "evidence": [
                {
                    "id": "615550",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615550"
                },
                {
                    "id": "0111882",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111882"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P54780-1",
            "uniprot_ac": "P54780",
            "uniprot_id": "RL15B_YEAST",
            "refseq_ac": "NP_013840",
            "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 eL15B",
                    "type": "recommended"
                },
                {
                    "name": "60S ribosomal protein L15-B",
                    "type": "synonym"
                },
                {
                    "name": "60S ribosomal protein eL15 RPL15B",
                    "type": "synonym"
                },
                {
                    "name": "L13",
                    "type": "synonym"
                },
                {
                    "name": "RP15R",
                    "type": "synonym"
                },
                {
                    "name": "YL10",
                    "type": "synonym"
                },
                {
                    "name": "YP18",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RPL15B",
                    "type": "recommended"
                },
                {
                    "name": "RPL10B",
                    "type": "synonym"
                },
                {
                    "name": "RPL13B",
                    "type": "synonym"
                },
                {
                    "name": "RPL15B",
                    "type": "synonym"
                },
                {
                    "name": "YL10B",
                    "type": "synonym"
                },
                {
                    "name": "YM8564.03C",
                    "type": "synonym"
                }
            ],
            "record_id": "P54780-1",
            "evidence": [
                {
                    "id": "0111882",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111882"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P05748-1",
            "uniprot_ac": "P05748",
            "uniprot_id": "RL15A_YEAST",
            "refseq_ac": "NP_013129",
            "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 eL15A",
                    "type": "recommended"
                },
                {
                    "name": "60S ribosomal protein L15-A",
                    "type": "synonym"
                },
                {
                    "name": "60S ribosomal protein eL15 RPL15A",
                    "type": "synonym"
                },
                {
                    "name": "L13",
                    "type": "synonym"
                },
                {
                    "name": "RP15R",
                    "type": "synonym"
                },
                {
                    "name": "YL10",
                    "type": "synonym"
                },
                {
                    "name": "YP18",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RPL15A",
                    "type": "recommended"
                },
                {
                    "name": "RPL10A",
                    "type": "synonym"
                },
                {
                    "name": "RPL13A",
                    "type": "synonym"
                },
                {
                    "name": "RPL15A",
                    "type": "synonym"
                },
                {
                    "name": "YL10A",
                    "type": "synonym"
                }
            ],
            "record_id": "P05748-1",
            "evidence": [
                {
                    "id": "0111882",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111882"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P61314-1",
            "uniprot_ac": "P61314",
            "uniprot_id": "RL15_RAT",
            "refseq_ac": "NP_620814",
            "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 eL15",
                    "type": "recommended"
                },
                {
                    "name": "60S ribosomal protein L15",
                    "type": "synonym"
                },
                {
                    "name": "large ribosomal subunit protein eL15",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rpl15l2",
                    "type": "recommended"
                },
                {
                    "name": "Rpl15l3",
                    "type": "recommended"
                },
                {
                    "name": "Rpl15",
                    "type": "recommended"
                },
                {
                    "name": "LOC100362479",
                    "type": "synonym"
                },
                {
                    "name": "RGD1565767",
                    "type": "synonym"
                },
                {
                    "name": "Rpl10",
                    "type": "synonym"
                },
                {
                    "name": "Rpl15l1",
                    "type": "synonym"
                },
                {
                    "name": "Rpl15l3",
                    "type": "synonym"
                },
                {
                    "name": "Rpl15",
                    "type": "synonym"
                }
            ],
            "record_id": "P61314-1",
            "evidence": [
                {
                    "id": "0111882",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111882"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O17445-1",
            "uniprot_ac": "O17445",
            "uniprot_id": "RL15_DROME",
            "refseq_ac": "NP_001015155",
            "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 eL15",
                    "type": "recommended"
                },
                {
                    "name": "60S ribosomal protein L15",
                    "type": "synonym"
                },
                {
                    "name": "CG17420-PA",
                    "type": "synonym"
                },
                {
                    "name": "RpL15-PA",
                    "type": "synonym"
                },
                {
                    "name": "lethal (3) 80Fi",
                    "type": "synonym"
                },
                {
                    "name": "lethal 2",
                    "type": "synonym"
                },
                {
                    "name": "lethal2",
                    "type": "synonym"
                },
                {
                    "name": "ribosomal L15",
                    "type": "synonym"
                },
                {
                    "name": "ribosomal protein L15, isoform A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RpL15",
                    "type": "recommended"
                },
                {
                    "name": "80Fi",
                    "type": "synonym"
                },
                {
                    "name": "CG17420",
                    "type": "synonym"
                },
                {
                    "name": "CG40199",
                    "type": "synonym"
                },
                {
                    "name": "DmRpL15",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG17420",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG17420",
                    "type": "synonym"
                },
                {
                    "name": "L15e",
                    "type": "synonym"
                },
                {
                    "name": "L15",
                    "type": "synonym"
                },
                {
                    "name": "RPL15",
                    "type": "synonym"
                },
                {
                    "name": "RpL15",
                    "type": "synonym"
                },
                {
                    "name": "Rpl15",
                    "type": "synonym"
                },
                {
                    "name": "ZITI",
                    "type": "synonym"
                },
                {
                    "name": "l(3)80Fi",
                    "type": "synonym"
                },
                {
                    "name": "l(3)Lh2",
                    "type": "synonym"
                },
                {
                    "name": "l2",
                    "type": "synonym"
                },
                {
                    "name": "lethal 2",
                    "type": "synonym"
                },
                {
                    "name": "rpL15",
                    "type": "synonym"
                },
                {
                    "name": "rpl15",
                    "type": "synonym"
                }
            ],
            "record_id": "O17445-1",
            "evidence": [
                {
                    "id": "0111882",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111882"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111882"
}