{
    "disease_id": "DOID:0111880",
    "recommended_name": {
        "id": "DOID:0111880",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111880",
        "name": "Diamond-Blackfan anemia 17",
        "description": "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS27 gene on chromosome 1q21.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111880",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111880",
            "name": "DBA17",
            "description": ""
        },
        {
            "id": "DOID:0111880",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111880",
            "name": "RPS27-related Diamond-Blackfan anemia",
            "description": ""
        },
        {
            "id": "MONDO:0044310",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044310",
            "name": "Diamond-Blackfan anemia 17",
            "description": ""
        },
        {
            "id": "MONDO:0044310",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044310",
            "name": "Diamond-Blackfan anemia 17",
            "description": ""
        },
        {
            "id": "MONDO:0044310",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044310",
            "name": "DBA17",
            "description": ""
        },
        {
            "id": "MIM:617409",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617409",
            "name": "Diamond-Blackfan anemia 17",
            "description": "Diamond-Blackfan anemia 17"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111880"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111880",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111880",
            "categories": []
        },
        {
            "id": "MONDO:0044310",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044310",
            "categories": []
        },
        {
            "id": "MIM:617409",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617409",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q6ZWU9-1",
            "uniprot_ac": "Q6ZWU9",
            "uniprot_id": "RS27_MOUSE",
            "refseq_ac": "NP_001177187",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Small ribosomal subunit protein eS27",
                    "type": "recommended"
                },
                {
                    "name": "40S ribosomal protein S27",
                    "type": "synonym"
                },
                {
                    "name": "ribosomal protein S27-like",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rps27",
                    "type": "recommended"
                },
                {
                    "name": "Gm9846",
                    "type": "synonym"
                },
                {
                    "name": "Rps27l2",
                    "type": "synonym"
                },
                {
                    "name": "Rps27rt",
                    "type": "synonym"
                },
                {
                    "name": "Rps27",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6ZWU9-1",
            "evidence": [
                {
                    "id": "0111880",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111880"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P42677-1",
            "uniprot_ac": "P42677",
            "uniprot_id": "RS27_HUMAN",
            "refseq_ac": "NP_001021",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Small ribosomal subunit protein eS27",
                    "type": "recommended"
                },
                {
                    "name": "40S ribosomal protein S27",
                    "type": "synonym"
                },
                {
                    "name": "MPS-1",
                    "type": "synonym"
                },
                {
                    "name": "Metallopan-stimulin 1",
                    "type": "synonym"
                },
                {
                    "name": "metallopan-stimulin 1",
                    "type": "synonym"
                },
                {
                    "name": "metallopanstimulin 1",
                    "type": "synonym"
                },
                {
                    "name": "small ribosomal subunit protein eS27 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "small ribosomal subunit protein eS27",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RPS27",
                    "type": "recommended"
                },
                {
                    "name": "DBA17",
                    "type": "synonym"
                },
                {
                    "name": "MPS-1",
                    "type": "synonym"
                },
                {
                    "name": "MPS1",
                    "type": "synonym"
                },
                {
                    "name": "RPS27",
                    "type": "synonym"
                },
                {
                    "name": "S27",
                    "type": "synonym"
                },
                {
                    "name": "eS27",
                    "type": "synonym"
                }
            ],
            "record_id": "P42677-1",
            "evidence": [
                {
                    "id": "617409",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617409"
                },
                {
                    "id": "0111880",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111880"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P38711-1",
            "uniprot_ac": "P38711",
            "uniprot_id": "RS27B_YEAST",
            "refseq_ac": "NP_011885",
            "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": "Small ribosomal subunit protein eS27B",
                    "type": "recommended"
                },
                {
                    "name": "40S ribosomal protein S27-B",
                    "type": "synonym"
                },
                {
                    "name": "40S ribosomal protein eS27 RPS27B",
                    "type": "synonym"
                },
                {
                    "name": "RP61",
                    "type": "synonym"
                },
                {
                    "name": "YS20",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RPS27B",
                    "type": "recommended"
                },
                {
                    "name": "RPS27B",
                    "type": "synonym"
                }
            ],
            "record_id": "P38711-1",
            "evidence": [
                {
                    "id": "0111880",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111880"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P35997-1",
            "uniprot_ac": "P35997",
            "uniprot_id": "RS27A_YEAST",
            "refseq_ac": "NP_012766",
            "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": "Small ribosomal subunit protein eS27A",
                    "type": "recommended"
                },
                {
                    "name": "40S ribosomal protein S27-A",
                    "type": "synonym"
                },
                {
                    "name": "40S ribosomal protein eS27 RPS27A",
                    "type": "synonym"
                },
                {
                    "name": "RP61",
                    "type": "synonym"
                },
                {
                    "name": "YS20",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RPS27A",
                    "type": "recommended"
                },
                {
                    "name": "RPS27A",
                    "type": "synonym"
                }
            ],
            "record_id": "P35997-1",
            "evidence": [
                {
                    "id": "0111880",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111880"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P24051-1",
            "uniprot_ac": "P24051",
            "uniprot_id": "RS27L_RAT",
            "refseq_ac": "NP_001263406",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Small ribosomal subunit protein eS27-like",
                    "type": "recommended"
                },
                {
                    "name": "40S ribosomal protein S27-like",
                    "type": "synonym"
                },
                {
                    "name": "ribosomal protein S27-like 1",
                    "type": "synonym"
                },
                {
                    "name": "ribosomal protein S27",
                    "type": "synonym"
                },
                {
                    "name": "small ribosomal subunit protein eS27-like",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LOC108353425",
                    "type": "recommended"
                },
                {
                    "name": "Rps27l3",
                    "type": "recommended"
                },
                {
                    "name": "Rps27l",
                    "type": "recommended"
                },
                {
                    "name": "Rps27",
                    "type": "recommended"
                },
                {
                    "name": "LOC100362987",
                    "type": "synonym"
                },
                {
                    "name": "LOC100911728",
                    "type": "synonym"
                },
                {
                    "name": "Rps27l1",
                    "type": "synonym"
                },
                {
                    "name": "Rps27l3",
                    "type": "synonym"
                },
                {
                    "name": "Rps27l",
                    "type": "synonym"
                },
                {
                    "name": "Rps27",
                    "type": "synonym"
                }
            ],
            "record_id": "P24051-1",
            "evidence": [
                {
                    "id": "0111880",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111880"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VBU9-1",
            "uniprot_ac": "Q9VBU9",
            "uniprot_id": "Q9VBU9_DROME",
            "refseq_ac": "NP_001247301",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "40S ribosomal protein S27",
                    "type": "recommended"
                },
                {
                    "name": "CG10423-PB",
                    "type": "synonym"
                },
                {
                    "name": "RpS27-PB",
                    "type": "synonym"
                },
                {
                    "name": "ribosomal protein S27, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RpS27",
                    "type": "recommended"
                },
                {
                    "name": "CG10423",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10423",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG10423",
                    "type": "synonym"
                },
                {
                    "name": "Q9VBU9_DROME",
                    "type": "synonym"
                },
                {
                    "name": "Rp S27",
                    "type": "synonym"
                },
                {
                    "name": "RpS27",
                    "type": "synonym"
                },
                {
                    "name": "S27e",
                    "type": "synonym"
                },
                {
                    "name": "anon-EST:Posey295",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VBU9-1",
            "evidence": [
                {
                    "id": "0111880",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111880"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111880"
}