{
    "disease_id": "DOID:0111895",
    "recommended_name": {
        "id": "DOID:0111895",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111895",
        "name": "Diamond-Blackfan anemia 1",
        "description": "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS19 gene on chromosome 19q13.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111895",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111895",
            "name": "DBA1",
            "description": ""
        },
        {
            "id": "DOID:0111895",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111895",
            "name": "RPS19-related Diamond-Blackfan anemia",
            "description": ""
        },
        {
            "id": "MONDO:0007110",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007110",
            "name": "Diamond-Blackfan anemia 1",
            "description": "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS19 gene."
        },
        {
            "id": "MONDO:0007110",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007110",
            "name": "DBA",
            "description": ""
        },
        {
            "id": "MONDO:0007110",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007110",
            "name": "Diamond-Blackfan Anaemia type 1",
            "description": ""
        },
        {
            "id": "MONDO:0007110",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007110",
            "name": "Diamond-Blackfan Anemia type 1",
            "description": ""
        },
        {
            "id": "MONDO:0007110",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007110",
            "name": "Diamond-Blackfan anaemia caused by mutation in RPS19",
            "description": ""
        },
        {
            "id": "MONDO:0007110",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007110",
            "name": "Diamond-Blackfan anemia 1",
            "description": ""
        },
        {
            "id": "MONDO:0007110",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007110",
            "name": "Diamond-Blackfan anemia caused by mutation in RPS19",
            "description": ""
        },
        {
            "id": "MONDO:0007110",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007110",
            "name": "RPS19 Diamond-Blackfan anaemia",
            "description": ""
        },
        {
            "id": "MONDO:0007110",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007110",
            "name": "RPS19 Diamond-Blackfan anemia",
            "description": ""
        },
        {
            "id": "MONDO:0007110",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007110",
            "name": "DBA1",
            "description": ""
        },
        {
            "id": "MIM:105650",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/105650",
            "name": "Diamond-Blackfan anemia 1",
            "description": "Diamond-Blackfan anemia 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111895"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111895",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111895",
            "categories": []
        },
        {
            "id": "MONDO:0007110",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007110",
            "categories": []
        },
        {
            "id": "MIM:105650",
            "database": "MIM",
            "url": "https://www.omim.org/entry/105650",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9CZX8-1",
            "uniprot_ac": "Q9CZX8",
            "uniprot_id": "RS19_MOUSE",
            "refseq_ac": "NP_075622",
            "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 eS19",
                    "type": "recommended"
                },
                {
                    "name": "40S ribosomal protein S19",
                    "type": "synonym"
                },
                {
                    "name": "small ribosomal subunit protein eS19 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "small ribosomal subunit protein eS19",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rps19",
                    "type": "recommended"
                },
                {
                    "name": "Dsk3",
                    "type": "synonym"
                },
                {
                    "name": "Rps19",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9CZX8-1",
            "evidence": [
                {
                    "id": "0111895",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111895"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P39019-1",
            "uniprot_ac": "P39019",
            "uniprot_id": "RS19_HUMAN",
            "refseq_ac": "NP_001013",
            "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 eS19",
                    "type": "recommended"
                },
                {
                    "name": "40S ribosomal protein S19",
                    "type": "synonym"
                },
                {
                    "name": "loss of heterozygosity on chromosome 19, region 1",
                    "type": "synonym"
                },
                {
                    "name": "loss of heterozygosity, 19, chromosomal region 1",
                    "type": "synonym"
                },
                {
                    "name": "small ribosomal subunit protein eS19 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "small ribosomal subunit protein eS19",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RPS19",
                    "type": "recommended"
                },
                {
                    "name": "DBA1",
                    "type": "synonym"
                },
                {
                    "name": "DBA",
                    "type": "synonym"
                },
                {
                    "name": "LOH19CR1",
                    "type": "synonym"
                },
                {
                    "name": "RPS19",
                    "type": "synonym"
                },
                {
                    "name": "S19",
                    "type": "synonym"
                },
                {
                    "name": "eS19",
                    "type": "synonym"
                }
            ],
            "record_id": "P39019-1",
            "evidence": [
                {
                    "id": "105650",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/105650"
                },
                {
                    "id": "0111895",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111895"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P07281-1",
            "uniprot_ac": "P07281",
            "uniprot_id": "RS19B_YEAST",
            "refseq_ac": "NP_014097",
            "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 eS19B",
                    "type": "recommended"
                },
                {
                    "name": "40S ribosomal protein S19-B",
                    "type": "synonym"
                },
                {
                    "name": "40S ribosomal protein eS19 RPS19B",
                    "type": "synonym"
                },
                {
                    "name": "RP55B",
                    "type": "synonym"
                },
                {
                    "name": "S16a",
                    "type": "synonym"
                },
                {
                    "name": "YS16B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RPS19B",
                    "type": "recommended"
                },
                {
                    "name": "N0422",
                    "type": "synonym"
                },
                {
                    "name": "RP55B",
                    "type": "synonym"
                },
                {
                    "name": "RPS16AB",
                    "type": "synonym"
                },
                {
                    "name": "RPS19B",
                    "type": "synonym"
                }
            ],
            "record_id": "P07281-1",
            "evidence": [
                {
                    "id": "0111895",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111895"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P07280-1",
            "uniprot_ac": "P07280",
            "uniprot_id": "RS19A_YEAST",
            "refseq_ac": "NP_014520",
            "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 eS19A",
                    "type": "recommended"
                },
                {
                    "name": "40S ribosomal protein S19-A",
                    "type": "synonym"
                },
                {
                    "name": "40S ribosomal protein eS19 RPS19A",
                    "type": "synonym"
                },
                {
                    "name": "RP55A",
                    "type": "synonym"
                },
                {
                    "name": "S16a",
                    "type": "synonym"
                },
                {
                    "name": "YP45",
                    "type": "synonym"
                },
                {
                    "name": "YS16A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RPS19A",
                    "type": "recommended"
                },
                {
                    "name": "RP55A",
                    "type": "synonym"
                },
                {
                    "name": "RPS16AA",
                    "type": "synonym"
                },
                {
                    "name": "RPS19A",
                    "type": "synonym"
                }
            ],
            "record_id": "P07280-1",
            "evidence": [
                {
                    "id": "0111895",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111895"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P17074-1",
            "uniprot_ac": "P17074",
            "uniprot_id": "RS19_RAT",
            "refseq_ac": "NP_001032423",
            "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 eS19",
                    "type": "recommended"
                },
                {
                    "name": "40S ribosomal protein S19",
                    "type": "synonym"
                },
                {
                    "name": "ribosomal protein S19-like2",
                    "type": "synonym"
                },
                {
                    "name": "small ribosomal subunit protein eS19",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LOC120095010",
                    "type": "recommended"
                },
                {
                    "name": "Rps19l3",
                    "type": "recommended"
                },
                {
                    "name": "Rps19",
                    "type": "recommended"
                },
                {
                    "name": "LOC100360843",
                    "type": "synonym"
                },
                {
                    "name": "LOC120095010",
                    "type": "synonym"
                },
                {
                    "name": "Rps19l2",
                    "type": "synonym"
                },
                {
                    "name": "Rps19l3",
                    "type": "synonym"
                },
                {
                    "name": "Rps19l4",
                    "type": "synonym"
                },
                {
                    "name": "Rps19",
                    "type": "synonym"
                }
            ],
            "record_id": "P17074-1",
            "evidence": [
                {
                    "id": "0111895",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111895"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7KS38-1",
            "uniprot_ac": "Q7KS38",
            "uniprot_id": "RS19B_DROME",
            "refseq_ac": "NP_001262891",
            "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 eS19B",
                    "type": "recommended"
                },
                {
                    "name": "40S ribosomal protein S19b",
                    "type": "synonym"
                },
                {
                    "name": "CG5338-PC",
                    "type": "synonym"
                },
                {
                    "name": "RpS19b-PC",
                    "type": "synonym"
                },
                {
                    "name": "ribosomal protein S19b, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "ribosomal protein S19",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RpS19b",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:SD22440",
                    "type": "synonym"
                },
                {
                    "name": "CG5338",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5338",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG5338",
                    "type": "synonym"
                },
                {
                    "name": "RPS19b",
                    "type": "synonym"
                },
                {
                    "name": "RpS19b",
                    "type": "synonym"
                },
                {
                    "name": "RpS19",
                    "type": "synonym"
                },
                {
                    "name": "rpS19",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7KS38-1",
            "evidence": [
                {
                    "id": "0111895",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111895"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P39018-1",
            "uniprot_ac": "P39018",
            "uniprot_id": "RS19A_DROME",
            "refseq_ac": "NP_001285338",
            "glycoprotein": "yes",
            "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 eS19A",
                    "type": "recommended"
                },
                {
                    "name": "40S ribosomal protein S19a",
                    "type": "synonym"
                },
                {
                    "name": "CG4464-PD",
                    "type": "synonym"
                },
                {
                    "name": "RpS19a-PD",
                    "type": "synonym"
                },
                {
                    "name": "ribosomal protein S19a, isoform D",
                    "type": "synonym"
                },
                {
                    "name": "ribosomal protein S19",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RpS19a",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:GM26647",
                    "type": "synonym"
                },
                {
                    "name": "CG4464",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4464",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4464",
                    "type": "synonym"
                },
                {
                    "name": "RPS19a",
                    "type": "synonym"
                },
                {
                    "name": "Rp S19a",
                    "type": "synonym"
                },
                {
                    "name": "RpS19a",
                    "type": "synonym"
                },
                {
                    "name": "RpS19",
                    "type": "synonym"
                },
                {
                    "name": "S19a",
                    "type": "synonym"
                },
                {
                    "name": "S19e",
                    "type": "synonym"
                },
                {
                    "name": "S19",
                    "type": "synonym"
                },
                {
                    "name": "rpS19",
                    "type": "synonym"
                }
            ],
            "record_id": "P39018-1",
            "evidence": [
                {
                    "id": "0111895",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111895"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111895"
}