{
    "disease_id": "DOID:0111890",
    "recommended_name": {
        "id": "DOID:0111890",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111890",
        "name": "Diamond-Blackfan anemia 4",
        "description": "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS17 gene on chromosome 15q25.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111890",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111890",
            "name": "DBA4",
            "description": ""
        },
        {
            "id": "DOID:0111890",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111890",
            "name": "RPS17-related Diamond-Blackfan anemia",
            "description": ""
        },
        {
            "id": "MONDO:0012924",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012924",
            "name": "Diamond-Blackfan anemia 4",
            "description": "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS17 gene."
        },
        {
            "id": "MONDO:0012924",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012924",
            "name": "Diamond-Blackfan Anaemia type 4",
            "description": ""
        },
        {
            "id": "MONDO:0012924",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012924",
            "name": "Diamond-Blackfan Anemia type 4",
            "description": ""
        },
        {
            "id": "MONDO:0012924",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012924",
            "name": "Diamond-Blackfan anaemia caused by mutation in RPS17",
            "description": ""
        },
        {
            "id": "MONDO:0012924",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012924",
            "name": "Diamond-Blackfan anemia 4",
            "description": ""
        },
        {
            "id": "MONDO:0012924",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012924",
            "name": "Diamond-Blackfan anemia caused by mutation in RPS17",
            "description": ""
        },
        {
            "id": "MONDO:0012924",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012924",
            "name": "RPS17 Diamond-Blackfan anaemia",
            "description": ""
        },
        {
            "id": "MONDO:0012924",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012924",
            "name": "RPS17 Diamond-Blackfan anemia",
            "description": ""
        },
        {
            "id": "MONDO:0012924",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012924",
            "name": "DBA4",
            "description": ""
        },
        {
            "id": "MIM:612527",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612527",
            "name": "Diamond-Blackfan anemia 4",
            "description": "Diamond-Blackfan anemia 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111890"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111890",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111890",
            "categories": []
        },
        {
            "id": "MONDO:0012924",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012924",
            "categories": []
        },
        {
            "id": "MIM:612527",
            "database": "MIM",
            "url": "https://www.omim.org/entry/612527",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P63276-1",
            "uniprot_ac": "P63276",
            "uniprot_id": "RS17_MOUSE",
            "refseq_ac": "NP_033118",
            "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 eS17",
                    "type": "recommended"
                },
                {
                    "name": "40S ribosomal protein S17",
                    "type": "synonym"
                },
                {
                    "name": "small ribosomal subunit protein eS17",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rps17",
                    "type": "recommended"
                },
                {
                    "name": "Rps17",
                    "type": "synonym"
                }
            ],
            "record_id": "P63276-1",
            "evidence": [
                {
                    "id": "0111890",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111890"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P08708-1",
            "uniprot_ac": "P08708",
            "uniprot_id": "RS17_HUMAN",
            "refseq_ac": "NP_001012",
            "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 eS17",
                    "type": "recommended"
                },
                {
                    "name": "40S ribosomal protein S17",
                    "type": "synonym"
                },
                {
                    "name": "small ribosomal subunit protein eS17",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RPS17",
                    "type": "recommended"
                },
                {
                    "name": "DBA4",
                    "type": "synonym"
                },
                {
                    "name": "RPS17L1",
                    "type": "synonym"
                },
                {
                    "name": "RPS17L2",
                    "type": "synonym"
                },
                {
                    "name": "RPS17L",
                    "type": "synonym"
                },
                {
                    "name": "RPS17",
                    "type": "synonym"
                },
                {
                    "name": "S17",
                    "type": "synonym"
                },
                {
                    "name": "eS17",
                    "type": "synonym"
                }
            ],
            "record_id": "P08708-1",
            "evidence": [
                {
                    "id": "612527",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/612527"
                },
                {
                    "id": "0111890",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111890"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P02407-1",
            "uniprot_ac": "P02407",
            "uniprot_id": "RS17A_YEAST",
            "refseq_ac": "NP_013688",
            "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 eS17A",
                    "type": "recommended"
                },
                {
                    "name": "40S ribosomal protein S17-A",
                    "type": "synonym"
                },
                {
                    "name": "40S ribosomal protein eS17 RPS17A",
                    "type": "synonym"
                },
                {
                    "name": "RP51A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RPS17A",
                    "type": "recommended"
                },
                {
                    "name": "RP51A",
                    "type": "synonym"
                },
                {
                    "name": "RPL51A",
                    "type": "synonym"
                },
                {
                    "name": "RPS17A",
                    "type": "synonym"
                }
            ],
            "record_id": "P02407-1",
            "evidence": [
                {
                    "id": "0111890",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111890"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P14127-1",
            "uniprot_ac": "P14127",
            "uniprot_id": "RS17B_YEAST",
            "refseq_ac": "NP_010735",
            "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 eS17B",
                    "type": "recommended"
                },
                {
                    "name": "40S ribosomal protein S17-B",
                    "type": "synonym"
                },
                {
                    "name": "40S ribosomal protein eS17 RPS17B",
                    "type": "synonym"
                },
                {
                    "name": "RP51B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RPS17B",
                    "type": "recommended"
                },
                {
                    "name": "RP51B",
                    "type": "synonym"
                },
                {
                    "name": "RPL51B",
                    "type": "synonym"
                },
                {
                    "name": "RPS17B",
                    "type": "synonym"
                }
            ],
            "record_id": "P14127-1",
            "evidence": [
                {
                    "id": "0111890",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111890"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5KR61-1",
            "uniprot_ac": "Q5KR61",
            "uniprot_id": "PIGV_RAT",
            "refseq_ac": "NP_001010966",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "GPI alpha-1,6-mannosyltransferase 2",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.-",
                    "type": "synonym"
                },
                {
                    "name": "GPI alpha-1,6-mannosyltransferase 2 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "GPI alpha-1,6-mannosyltransferase 2",
                    "type": "synonym"
                },
                {
                    "name": "GPI mannosyltransferase 2",
                    "type": "synonym"
                },
                {
                    "name": "GPI mannosyltransferase II",
                    "type": "synonym"
                },
                {
                    "name": "GPI-MT-II",
                    "type": "synonym"
                },
                {
                    "name": "PIG-V",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol-glycan biosynthesis class V protein",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol glycan, class V",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol-glycan biosynthesis class V protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pigv",
                    "type": "recommended"
                },
                {
                    "name": "Pigv",
                    "type": "synonym"
                },
                {
                    "name": "RGD1309526",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5KR61-1",
            "evidence": [
                {
                    "id": "0111890",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111890"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P04644-1",
            "uniprot_ac": "P04644",
            "uniprot_id": "RS17_RAT",
            "refseq_ac": "NP_058848",
            "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 eS17",
                    "type": "recommended"
                },
                {
                    "name": "40S ribosomal protein S17",
                    "type": "synonym"
                },
                {
                    "name": "small ribosomal subunit protein eS17",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LOC100362366",
                    "type": "recommended"
                },
                {
                    "name": "Rps17l1",
                    "type": "recommended"
                },
                {
                    "name": "Rps17l4",
                    "type": "recommended"
                },
                {
                    "name": "Rps17",
                    "type": "recommended"
                },
                {
                    "name": "LOC100362366",
                    "type": "synonym"
                },
                {
                    "name": "LOC100365810",
                    "type": "synonym"
                },
                {
                    "name": "LOC108352780",
                    "type": "synonym"
                },
                {
                    "name": "RGD1562381",
                    "type": "synonym"
                },
                {
                    "name": "Rps17l2",
                    "type": "synonym"
                },
                {
                    "name": "Rps17",
                    "type": "synonym"
                }
            ],
            "record_id": "P04644-1",
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                {
                    "id": "0111890",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111890"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LH50-1",
            "uniprot_ac": "A0ABK0LH50",
            "uniprot_id": "A0ABK0LH50_RAT",
            "refseq_ac": "XP_038940690",
            "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 eS17",
                    "type": "recommended"
                },
                {
                    "name": "40S ribosomal protein S17",
                    "type": "synonym"
                },
                {
                    "name": "small ribosomal subunit protein eS17-like",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rps17l2",
                    "type": "recommended"
                },
                {
                    "name": "Rps17l2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ABK0LH50-1",
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                {
                    "id": "0111890",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111890"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P17704-1",
            "uniprot_ac": "P17704",
            "uniprot_id": "RS17_DROME",
            "refseq_ac": "NP_524002",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Small ribosomal subunit protein eS17",
                    "type": "recommended"
                },
                {
                    "name": "40S ribosomal protein S17",
                    "type": "synonym"
                },
                {
                    "name": "CG3922-PB",
                    "type": "synonym"
                },
                {
                    "name": "Minute(3)67C",
                    "type": "synonym"
                },
                {
                    "name": "RpS17-PB",
                    "type": "synonym"
                },
                {
                    "name": "minute",
                    "type": "synonym"
                },
                {
                    "name": "ribosomal protein S17",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RpS17",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:RE44119",
                    "type": "synonym"
                },
                {
                    "name": "CG3922",
                    "type": "synonym"
                },
                {
                    "name": "D9",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3922",
                    "type": "synonym"
                },
                {
                    "name": "M(3)67C",
                    "type": "synonym"
                },
                {
                    "name": "M(3)67",
                    "type": "synonym"
                },
                {
                    "name": "M(3)RpS17",
                    "type": "synonym"
                },
                {
                    "name": "M(3)S33",
                    "type": "synonym"
                },
                {
                    "name": "M(3)i(55)",
                    "type": "synonym"
                },
                {
                    "name": "M(3)i[55]",
                    "type": "synonym"
                },
                {
                    "name": "M(3)i",
                    "type": "synonym"
                },
                {
                    "name": "M(3)q",
                    "type": "synonym"
                },
                {
                    "name": "M(3L)i[55]",
                    "type": "synonym"
                },
                {
                    "name": "M(3L)i",
                    "type": "synonym"
                },
                {
                    "name": "Minute",
                    "type": "synonym"
                },
                {
                    "name": "M",
                    "type": "synonym"
                },
                {
                    "name": "RPS17",
                    "type": "synonym"
                },
                {
                    "name": "RS17_DROME",
                    "type": "synonym"
                },
                {
                    "name": "Rp S17",
                    "type": "synonym"
                },
                {
                    "name": "RpS17",
                    "type": "synonym"
                },
                {
                    "name": "Rps17",
                    "type": "synonym"
                },
                {
                    "name": "S17e",
                    "type": "synonym"
                },
                {
                    "name": "anon-EST:Posey48",
                    "type": "synonym"
                },
                {
                    "name": "l(3)67BDo",
                    "type": "synonym"
                },
                {
                    "name": "l(3)dtOA4",
                    "type": "synonym"
                },
                {
                    "name": "minute",
                    "type": "synonym"
                },
                {
                    "name": "rpS17",
                    "type": "synonym"
                }
            ],
            "record_id": "P17704-1",
            "evidence": [
                {
                    "id": "0111890",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111890"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111890"
}