{
    "disease_id": "DOID:0111897",
    "recommended_name": {
        "id": "DOID:0111897",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111897",
        "name": "Diamond-Blackfan anemia 14 with mandibulofacial dysostosis",
        "description": "A Diamond-Blackfan anemia characterized by Diamond-Blackfan anemia, bilateral microtia, and cleft palate that has_material_basis_in hemizygous mutation in the TSR2 gene on chromosome Xp11.22."
    },
    "synonyms": [
        {
            "id": "DOID:0111897",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111897",
            "name": "DBA14",
            "description": ""
        },
        {
            "id": "MONDO:0010493",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010493",
            "name": "Diamond-Blackfan anemia 14 with mandibulofacial dysostosis",
            "description": "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the TSR2 gene."
        },
        {
            "id": "MONDO:0010493",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010493",
            "name": "Diamond-Blackfan anaemia 14 with mandibulofacial dysostosis, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010493",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010493",
            "name": "Diamond-Blackfan anaemia caused by mutation in TSR2",
            "description": ""
        },
        {
            "id": "MONDO:0010493",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010493",
            "name": "Diamond-Blackfan anemia 14 with mandibulofacial dysostosis",
            "description": ""
        },
        {
            "id": "MONDO:0010493",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010493",
            "name": "Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010493",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010493",
            "name": "Diamond-Blackfan anemia caused by mutation in TSR2",
            "description": ""
        },
        {
            "id": "MONDO:0010493",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010493",
            "name": "TSR2 Diamond-Blackfan anaemia",
            "description": ""
        },
        {
            "id": "MONDO:0010493",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010493",
            "name": "TSR2 Diamond-Blackfan anemia",
            "description": ""
        },
        {
            "id": "MONDO:0010493",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010493",
            "name": "DBA14",
            "description": ""
        },
        {
            "id": "MIM:300946",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300946",
            "name": "Diamond-Blackfan anemia 14, with mandibulofacial dysostosis",
            "description": "Diamond-Blackfan anemia 14, with mandibulofacial dysostosis"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111897"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111897",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111897",
            "categories": []
        },
        {
            "id": "MONDO:0010493",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010493",
            "categories": []
        },
        {
            "id": "MIM:300946",
            "database": "MIM",
            "url": "https://www.omim.org/entry/300946",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q3KRG3-1",
            "uniprot_ac": "Q3KRG3",
            "uniprot_id": "TSR2_DANRE",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pre-rRNA-processing protein TSR2 homolog",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "tsr2",
                    "type": "recommended"
                },
                {
                    "name": "chunp6926",
                    "type": "synonym"
                },
                {
                    "name": "dt1p1a10l",
                    "type": "synonym"
                },
                {
                    "name": "zgc:109784",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3KRG3-1",
            "evidence": [
                {
                    "id": "0111897",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111897"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8C8T8-1",
            "uniprot_ac": "Q8C8T8",
            "uniprot_id": "TSR2_MOUSE",
            "refseq_ac": "NP_780355",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pre-rRNA-processing protein TSR2 homolog",
                    "type": "recommended"
                },
                {
                    "name": "TSR2, 20S rRNA accumulation, homolog",
                    "type": "synonym"
                },
                {
                    "name": "pre-rRNA-processing protein TSR2 homolog isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "pre-rRNA-processing protein TSR2 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tsr2",
                    "type": "recommended"
                },
                {
                    "name": "2310007F12Rik",
                    "type": "synonym"
                },
                {
                    "name": "Tsr2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8C8T8-1",
            "evidence": [
                {
                    "id": "0111897",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111897"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q969E8-1",
            "uniprot_ac": "Q969E8",
            "uniprot_id": "TSR2_HUMAN",
            "refseq_ac": "NP_477511",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pre-rRNA-processing protein TSR2 homolog",
                    "type": "recommended"
                },
                {
                    "name": "TSR2, 20S rRNA accumulation, homolog",
                    "type": "synonym"
                },
                {
                    "name": "WGG motif containing 1",
                    "type": "synonym"
                },
                {
                    "name": "escortin",
                    "type": "synonym"
                },
                {
                    "name": "pre-rRNA-processing protein TSR2 homolog isoform a",
                    "type": "synonym"
                },
                {
                    "name": "pre-rRNA-processing protein TSR2 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TSR2",
                    "type": "recommended"
                },
                {
                    "name": "DBA14",
                    "type": "synonym"
                },
                {
                    "name": "DT1P1A10",
                    "type": "synonym"
                },
                {
                    "name": "TSR2",
                    "type": "synonym"
                },
                {
                    "name": "WGG1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q969E8-1",
            "evidence": [
                {
                    "id": "300946",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/300946"
                },
                {
                    "id": "0111897",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111897"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q06672-1",
            "uniprot_ac": "Q06672",
            "uniprot_id": "TSR2_YEAST",
            "refseq_ac": "NP_013539",
            "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": "Pre-rRNA-processing protein TSR2",
                    "type": "recommended"
                },
                {
                    "name": "20S rRNA accumulation protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Tsr2p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TSR2",
                    "type": "recommended"
                },
                {
                    "name": "TSR2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q06672-1",
            "evidence": [
                {
                    "id": "0111897",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111897"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6A4W3-1",
            "uniprot_ac": "A0A8I6A4W3",
            "uniprot_id": "A0A8I6A4W3_RAT",
            "refseq_ac": "NP_001108499",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pre-rRNA-processing protein TSR2 homolog",
                    "type": "recommended"
                },
                {
                    "name": "TSR2, 20S rRNA accumulation, homolog",
                    "type": "synonym"
                },
                {
                    "name": "pre-rRNA-processing protein TSR2 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tsr2",
                    "type": "recommended"
                },
                {
                    "name": "RGD1562416",
                    "type": "synonym"
                },
                {
                    "name": "Tsr2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I6A4W3-1",
            "evidence": [
                {
                    "id": "0111897",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111897"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VBI0-1",
            "uniprot_ac": "Q9VBI0",
            "uniprot_id": "Q9VBI0_DROME",
            "refseq_ac": "NP_651458",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pre-rRNA-processing protein TSR2 homolog",
                    "type": "recommended"
                },
                {
                    "name": "CG14543-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG14543",
                    "type": "recommended"
                },
                {
                    "name": "CG14543",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG14543",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG14543",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VBI0-1",
            "evidence": [
                {
                    "id": "0111897",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111897"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111897"
}