{
    "disease_id": "DOID:0111889",
    "recommended_name": {
        "id": "DOID:0111889",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111889",
        "name": "Diamond-Blackfan anemia 13",
        "description": "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS29 gene on chromosome 14q21.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111889",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111889",
            "name": "DBA13",
            "description": ""
        },
        {
            "id": "DOID:0111889",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111889",
            "name": "RPS29-related Diamond-Blackfan anemia",
            "description": ""
        },
        {
            "id": "MONDO:0014394",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014394",
            "name": "Diamond-Blackfan anemia 13",
            "description": "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS29 gene."
        },
        {
            "id": "MONDO:0014394",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014394",
            "name": "Diamond-Blackfan Anaemia type 13",
            "description": ""
        },
        {
            "id": "MONDO:0014394",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014394",
            "name": "Diamond-Blackfan Anemia type 13",
            "description": ""
        },
        {
            "id": "MONDO:0014394",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014394",
            "name": "Diamond-Blackfan anaemia caused by mutation in RPS29",
            "description": ""
        },
        {
            "id": "MONDO:0014394",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014394",
            "name": "Diamond-Blackfan anemia 13",
            "description": ""
        },
        {
            "id": "MONDO:0014394",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014394",
            "name": "Diamond-Blackfan anemia caused by mutation in RPS29",
            "description": ""
        },
        {
            "id": "MONDO:0014394",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014394",
            "name": "RPS29 Diamond-Blackfan anaemia",
            "description": ""
        },
        {
            "id": "MONDO:0014394",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014394",
            "name": "RPS29 Diamond-Blackfan anemia",
            "description": ""
        },
        {
            "id": "MONDO:0014394",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014394",
            "name": "DBA13",
            "description": ""
        },
        {
            "id": "MIM:615909",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615909",
            "name": "Diamond-Blackfan anemia 13",
            "description": "Diamond-Blackfan anemia 13"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111889"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111889",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111889",
            "categories": []
        },
        {
            "id": "MONDO:0014394",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014394",
            "categories": []
        },
        {
            "id": "MIM:615909",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615909",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P62274-1",
            "uniprot_ac": "P62274",
            "uniprot_id": "RS29_MOUSE",
            "refseq_ac": "NP_033119",
            "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 uS14",
                    "type": "recommended"
                },
                {
                    "name": "40S ribosomal protein S29",
                    "type": "synonym"
                },
                {
                    "name": "S29 ribosomal protein",
                    "type": "synonym"
                },
                {
                    "name": "small ribosomal subunit protein uS14",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rps29",
                    "type": "recommended"
                },
                {
                    "name": "Rps29",
                    "type": "synonym"
                }
            ],
            "record_id": "P62274-1",
            "evidence": [
                {
                    "id": "0111889",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111889"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P62273-1",
            "uniprot_ac": "P62273",
            "uniprot_id": "RS29_HUMAN",
            "refseq_ac": "NP_001023",
            "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 uS14",
                    "type": "recommended"
                },
                {
                    "name": "40S ribosomal protein S29",
                    "type": "synonym"
                },
                {
                    "name": "small ribosomal subunit protein uS14 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "small ribosomal subunit protein uS14",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RPS29",
                    "type": "recommended"
                },
                {
                    "name": "DBA13",
                    "type": "synonym"
                },
                {
                    "name": "RPS29",
                    "type": "synonym"
                },
                {
                    "name": "S29",
                    "type": "synonym"
                },
                {
                    "name": "uS14",
                    "type": "synonym"
                }
            ],
            "record_id": "P62273-1",
            "evidence": [
                {
                    "id": "615909",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615909"
                },
                {
                    "id": "0111889",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111889"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P41057-1",
            "uniprot_ac": "P41057",
            "uniprot_id": "RS29A_YEAST",
            "refseq_ac": "NP_013492",
            "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 uS14A",
                    "type": "recommended"
                },
                {
                    "name": "40S ribosomal protein S29-A",
                    "type": "synonym"
                },
                {
                    "name": "40S ribosomal protein uS14 RPS29A",
                    "type": "synonym"
                },
                {
                    "name": "S36",
                    "type": "synonym"
                },
                {
                    "name": "YS29",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RPS29A",
                    "type": "recommended"
                },
                {
                    "name": "L8084.11",
                    "type": "synonym"
                },
                {
                    "name": "RPS29A",
                    "type": "synonym"
                },
                {
                    "name": "RPS36A",
                    "type": "synonym"
                },
                {
                    "name": "YS29A",
                    "type": "synonym"
                }
            ],
            "record_id": "P41057-1",
            "evidence": [
                {
                    "id": "0111889",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111889"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P41058-1",
            "uniprot_ac": "P41058",
            "uniprot_id": "RS29B_YEAST",
            "refseq_ac": "NP_010222",
            "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 uS14B",
                    "type": "recommended"
                },
                {
                    "name": "40S ribosomal protein S29-B",
                    "type": "synonym"
                },
                {
                    "name": "40S ribosomal protein uS14 RPS29B",
                    "type": "synonym"
                },
                {
                    "name": "S36",
                    "type": "synonym"
                },
                {
                    "name": "YS29",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RPS29B",
                    "type": "recommended"
                },
                {
                    "name": "RPS29B",
                    "type": "synonym"
                },
                {
                    "name": "RPS36B",
                    "type": "synonym"
                },
                {
                    "name": "YS29B",
                    "type": "synonym"
                }
            ],
            "record_id": "P41058-1",
            "evidence": [
                {
                    "id": "0111889",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111889"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P62275-1",
            "uniprot_ac": "P62275",
            "uniprot_id": "RS29_RAT",
            "refseq_ac": "NP_037008",
            "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 uS14",
                    "type": "recommended"
                },
                {
                    "name": "40S ribosomal protein S29",
                    "type": "synonym"
                },
                {
                    "name": "small ribosomal subunit protein uS14",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ENSRNOG00000070428",
                    "type": "recommended"
                },
                {
                    "name": "Rps29",
                    "type": "recommended"
                },
                {
                    "name": "Rps29",
                    "type": "synonym"
                }
            ],
            "record_id": "P62275-1",
            "evidence": [
                {
                    "id": "0111889",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111889"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VH69-1",
            "uniprot_ac": "Q9VH69",
            "uniprot_id": "RS29_DROME",
            "refseq_ac": "NP_649946",
            "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 uS14",
                    "type": "recommended"
                },
                {
                    "name": "40S ribosomal protein S29",
                    "type": "synonym"
                },
                {
                    "name": "CG8495-PA",
                    "type": "synonym"
                },
                {
                    "name": "RpS29-PA",
                    "type": "synonym"
                },
                {
                    "name": "anon-fast-evolving-3B4",
                    "type": "synonym"
                },
                {
                    "name": "minute (3) 85E",
                    "type": "synonym"
                },
                {
                    "name": "ribosomal protein S29, isoform A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RpS29",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:AT13329",
                    "type": "synonym"
                },
                {
                    "name": "BcDNA:AT28563",
                    "type": "synonym"
                },
                {
                    "name": "BcDNA:RH06643",
                    "type": "synonym"
                },
                {
                    "name": "CG8495",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8495",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG8495",
                    "type": "synonym"
                },
                {
                    "name": "M(3)85E",
                    "type": "synonym"
                },
                {
                    "name": "M(3)LS5",
                    "type": "synonym"
                },
                {
                    "name": "RpS29",
                    "type": "synonym"
                },
                {
                    "name": "Rps29",
                    "type": "synonym"
                },
                {
                    "name": "S14",
                    "type": "synonym"
                },
                {
                    "name": "anon-EST:fe3B4",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0118547.360",
                    "type": "synonym"
                },
                {
                    "name": "chr3R:5604479..5604622",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VH69-1",
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                {
                    "id": "0111889",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111889"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NYQ8-1",
            "uniprot_ac": "Q9NYQ8",
            "uniprot_id": "FAT2_HUMAN",
            "refseq_ac": "NP_001438",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protocadherin Fat 2",
                    "type": "recommended"
                },
                {
                    "name": "Cadherin family member 8",
                    "type": "synonym"
                },
                {
                    "name": "FAT tumor suppressor homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "Multiple EGF-like domains protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Multiple epidermal growth factor-like domains protein 1",
                    "type": "synonym"
                },
                {
                    "name": "cadherin family member 8",
                    "type": "synonym"
                },
                {
                    "name": "cadherin-related family member 9",
                    "type": "synonym"
                },
                {
                    "name": "hFat2",
                    "type": "synonym"
                },
                {
                    "name": "multiple EGF like domains 1",
                    "type": "synonym"
                },
                {
                    "name": "multiple EGF-like domains protein 1",
                    "type": "synonym"
                },
                {
                    "name": "multiple epidermal growth factor-like domains 1",
                    "type": "synonym"
                },
                {
                    "name": "multiple epidermal growth factor-like domains protein 1",
                    "type": "synonym"
                },
                {
                    "name": "protocadherin FAT2",
                    "type": "synonym"
                },
                {
                    "name": "protocadherin Fat 2 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FAT2",
                    "type": "recommended"
                },
                {
                    "name": "CDHF8",
                    "type": "synonym"
                },
                {
                    "name": "CDHR9",
                    "type": "synonym"
                },
                {
                    "name": "FAT2",
                    "type": "synonym"
                },
                {
                    "name": "HFAT2",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0811",
                    "type": "synonym"
                },
                {
                    "name": "MEGF1",
                    "type": "synonym"
                },
                {
                    "name": "SCA45",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NYQ8-1",
            "evidence": [
                {
                    "id": "0111889",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111889"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111889"
}