{
    "disease_id": "DOID:0111637",
    "recommended_name": {
        "id": "DOID:0111637",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111637",
        "name": "autosomal recessive nonsyndromic deafness 112",
        "description": "An autosomal recessive nonsyndromic deafness characterized by postlingual progressive sensorineural hearing impairment that has_material_basis_in homozygous or compound heterozygous mutation in the BDP1 gene on chromosome 5q13.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111637",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111637",
            "name": "DFNB112",
            "description": ""
        },
        {
            "id": "DOID:0111637",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111637",
            "name": "autosomal recessive deafness 112",
            "description": ""
        },
        {
            "id": "MONDO:0032639",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032639",
            "name": "hearing loss, autosomal recessive 112",
            "description": ""
        },
        {
            "id": "MONDO:0032639",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032639",
            "name": "DFNB112",
            "description": ""
        },
        {
            "id": "MONDO:0032639",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032639",
            "name": "deafness, autosomal recessive 112",
            "description": ""
        },
        {
            "id": "MIM:618257",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618257",
            "name": "Deafness, autosomal recessive, 112",
            "description": "Deafness, autosomal recessive, 112"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111637"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111637",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111637",
            "categories": []
        },
        {
            "id": "MONDO:0032639",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032639",
            "categories": []
        },
        {
            "id": "MIM:618257",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618257",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M6YV30-1",
            "uniprot_ac": "A0A8M6YV30",
            "uniprot_id": "A0A8M6YV30_DANRE",
            "refseq_ac": "NP_001417743",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Uncharacterized protein LOC553495",
                    "type": "synonym"
                },
                {
                    "name": "Uncharacterized protein isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein LOC553495",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "im:7160152",
                    "type": "recommended"
                },
                {
                    "name": "wu:fc57d05",
                    "type": "recommended"
                },
                {
                    "name": "zgc:162472",
                    "type": "recommended"
                },
                {
                    "name": "im:7160152",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc57d05",
                    "type": "synonym"
                },
                {
                    "name": "zgc:162472",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M6YV30-1",
            "evidence": [
                {
                    "id": "0111637",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111637"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q571C7-1",
            "uniprot_ac": "Q571C7",
            "uniprot_id": "BDP1_MOUSE",
            "refseq_ac": "NP_001074530",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription factor TFIIIB component B'' homolog",
                    "type": "recommended"
                },
                {
                    "name": "TFIIIB150",
                    "type": "synonym"
                },
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                    "name": "Transcription factor IIIB 150",
                    "type": "synonym"
                },
                {
                    "name": "Transcription factor-like nuclear regulator",
                    "type": "synonym"
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                    "name": "transcription factor IIIB 150",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor TFIIIB component B'' homolog",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor-like nuclear regulator",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bdp1",
                    "type": "recommended"
                },
                {
                    "name": "B130055N23Rik",
                    "type": "synonym"
                },
                {
                    "name": "Bdp1",
                    "type": "synonym"
                },
                {
                    "name": "G630013P12Rik",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa1241",
                    "type": "synonym"
                },
                {
                    "name": "TAF3B1",
                    "type": "synonym"
                },
                {
                    "name": "TFC5",
                    "type": "synonym"
                },
                {
                    "name": "TFIIIB150",
                    "type": "synonym"
                },
                {
                    "name": "TFIIIB90",
                    "type": "synonym"
                },
                {
                    "name": "Tfnr",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA1241",
                    "type": "synonym"
                }
            ],
            "record_id": "Q571C7-1",
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                    "id": "0111637",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111637"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A6H8Y1-1",
            "uniprot_ac": "A6H8Y1",
            "uniprot_id": "BDP1_HUMAN",
            "refseq_ac": "NP_060899",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription factor TFIIIB component B'' homolog",
                    "type": "recommended"
                },
                {
                    "name": "B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB",
                    "type": "synonym"
                },
                {
                    "name": "RNA polymerase III transcription initiation factor B''",
                    "type": "synonym"
                },
                {
                    "name": "TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "TFIIIB150",
                    "type": "synonym"
                },
                {
                    "name": "Transcription factor IIIB 150",
                    "type": "synonym"
                },
                {
                    "name": "Transcription factor-like nuclear regulator",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor IIIB 150",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor TFIIIB component B'' homolog",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor-like nuclear regulator",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BDP1",
                    "type": "recommended"
                },
                {
                    "name": "BDP1",
                    "type": "synonym"
                },
                {
                    "name": "DFNB112",
                    "type": "synonym"
                },
                {
                    "name": "HSA238520",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1241",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1689",
                    "type": "synonym"
                },
                {
                    "name": "TAF3B1",
                    "type": "synonym"
                },
                {
                    "name": "TFC5",
                    "type": "synonym"
                },
                {
                    "name": "TFIIIB''",
                    "type": "synonym"
                },
                {
                    "name": "TFIIIB150",
                    "type": "synonym"
                },
                {
                    "name": "TFIIIB90",
                    "type": "synonym"
                },
                {
                    "name": "TFNR",
                    "type": "synonym"
                }
            ],
            "record_id": "A6H8Y1-1",
            "evidence": [
                {
                    "id": "618257",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618257"
                },
                {
                    "id": "0111637",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111637"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P46678-1",
            "uniprot_ac": "P46678",
            "uniprot_id": "TFC5_YEAST",
            "refseq_ac": "NP_014359",
            "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": "Transcription factor TFIIIB component B''",
                    "type": "recommended"
                },
                {
                    "name": "TFIIIB90",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor TFIIIB subunit BDP1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BDP1",
                    "type": "recommended"
                },
                {
                    "name": "BDP1",
                    "type": "synonym"
                },
                {
                    "name": "N2682",
                    "type": "synonym"
                },
                {
                    "name": "TFC5",
                    "type": "synonym"
                },
                {
                    "name": "TFC7",
                    "type": "synonym"
                }
            ],
            "record_id": "P46678-1",
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                {
                    "id": "0111637",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111637"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LUC8-1",
            "uniprot_ac": "A0ABK0LUC8",
            "uniprot_id": "A0ABK0LUC8_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bdp1",
                    "type": "recommended"
                }
            ],
            "record_id": "A0ABK0LUC8-1",
            "evidence": [
                {
                    "id": "0111637",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111637"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VJZ3-1",
            "uniprot_ac": "Q9VJZ3",
            "uniprot_id": "Q9VJZ3_DROME",
            "refseq_ac": "NP_609643",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "B double prime 1, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Bdp1-PA",
                    "type": "synonym"
                },
                {
                    "name": "CG9305-PA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bdp1",
                    "type": "recommended"
                },
                {
                    "name": "Bdp1",
                    "type": "synonym"
                },
                {
                    "name": "CG9305",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9305",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG9305",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VJZ3-1",
            "evidence": [
                {
                    "id": "0111637",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111637"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111637"
}