{
    "disease_id": "DOID:0080898",
    "recommended_name": {
        "id": "DOID:0080898",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080898",
        "name": "cerebellofaciodental syndrome",
        "description": "A syndrome that is characterized by delayed development, intellectual disability, abnormal facial and dental findings, and cerebellar hypoplasia and that has_material_basis_in homozygous or compound heterozygous mutation in the BRF1 gene on chromosome 14q32."
    },
    "synonyms": [
        {
            "id": "DOID:0080898",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080898",
            "name": "cerebellar-facial-dental syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014529",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014529",
            "name": "cerebellar-facial-dental syndrome",
            "description": "A syndrome that is characterized by delayed development, intellectual disability, abnormal facial and dental findings, and cerebellar hypoplasia and that has material basis in homozygous or compound heterozygous mutation in the BRF1 gene on chromosome 14q32."
        },
        {
            "id": "MONDO:0014529",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014529",
            "name": "Cerebellofaciodental syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014529",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014529",
            "name": "cerebellar-facial-dental syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014529",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014529",
            "name": "CEREBELLOFACIODENTAL syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014529",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014529",
            "name": "CFDS",
            "description": ""
        },
        {
            "id": "MIM:616202",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616202",
            "name": "Cerebellofaciodental syndrome",
            "description": "Cerebellofaciodental syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080898"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080898",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080898",
            "categories": []
        },
        {
            "id": "MONDO:0014529",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014529",
            "categories": []
        },
        {
            "id": "MIM:616202",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616202",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1R9S3-1",
            "uniprot_ac": "F1R9S3",
            "uniprot_id": "F1R9S3_DANRE",
            "refseq_ac": "XP_017214188",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription factor IIIB 90 kDa subunit",
                    "type": "recommended"
                },
                {
                    "name": "B-related factor 1",
                    "type": "synonym"
                },
                {
                    "name": "BRF1 general transcription factor IIIB subunit a isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "brf1a",
                    "type": "recommended"
                },
                {
                    "name": "brf1a",
                    "type": "synonym"
                },
                {
                    "name": "brf1",
                    "type": "synonym"
                },
                {
                    "name": "wu:fi47f03",
                    "type": "synonym"
                },
                {
                    "name": "zgc:55543",
                    "type": "synonym"
                }
            ],
            "record_id": "F1R9S3-1",
            "evidence": [
                {
                    "id": "0080898",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080898"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0AB32T7S5-1",
            "uniprot_ac": "A0AB32T7S5",
            "uniprot_id": "A0AB32T7S5_DANRE",
            "refseq_ac": "XP_068071488",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription factor IIIB 90 kDa subunit",
                    "type": "recommended"
                },
                {
                    "name": "B-related factor 1",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor IIIB 90 kDa subunit isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "brf1b",
                    "type": "recommended"
                },
                {
                    "name": "brf1b",
                    "type": "synonym"
                },
                {
                    "name": "fi40c10",
                    "type": "synonym"
                },
                {
                    "name": "wu:fi40c10",
                    "type": "synonym"
                },
                {
                    "name": "zgc:63497",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB32T7S5-1",
            "evidence": [
                {
                    "id": "0080898",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080898"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8CFK2-1",
            "uniprot_ac": "Q8CFK2",
            "uniprot_id": "TF3B_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription factor IIIB 90 kDa subunit",
                    "type": "recommended"
                },
                {
                    "name": "B-related factor 1",
                    "type": "synonym"
                },
                {
                    "name": "BRF-1",
                    "type": "synonym"
                },
                {
                    "name": "TFIIIB90",
                    "type": "synonym"
                },
                {
                    "name": "mTFIIIB90",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Brf1",
                    "type": "recommended"
                }
            ],
            "record_id": "Q8CFK2-1",
            "evidence": [
                {
                    "id": "0080898",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080898"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q92994-1",
            "uniprot_ac": "Q92994",
            "uniprot_id": "TF3B_HUMAN",
            "refseq_ac": "NP_001229715",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription factor IIIB 90 kDa subunit",
                    "type": "recommended"
                },
                {
                    "name": "B - related factor 1",
                    "type": "synonym"
                },
                {
                    "name": "B-related factor 1",
                    "type": "synonym"
                },
                {
                    "name": "BRF-1",
                    "type": "synonym"
                },
                {
                    "name": "BRF1 RNA polymerase III transcription initiation factor subunit",
                    "type": "synonym"
                },
                {
                    "name": "BRF1 homolog, subunit of RNA polymerase III transcription initiation factor IIIB",
                    "type": "synonym"
                },
                {
                    "name": "BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "TAF3B2",
                    "type": "synonym"
                },
                {
                    "name": "TATA box binding protein (TBP)-associated factor 3C",
                    "type": "synonym"
                },
                {
                    "name": "TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 2",
                    "type": "synonym"
                },
                {
                    "name": "TATA box-binding protein-associated factor, RNA polymerase III, subunit 2",
                    "type": "synonym"
                },
                {
                    "name": "TBP - associated factor, RNA polymerase III, 90kD",
                    "type": "synonym"
                },
                {
                    "name": "TFIIIB90",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein Li 76p",
                    "type": "synonym"
                },
                {
                    "name": "general transcription factor IIIB, 90kD subunit",
                    "type": "synonym"
                },
                {
                    "name": "hBRF",
                    "type": "synonym"
                },
                {
                    "name": "hTFIIIB90",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor IIIB 90 kDa subunit isoform 4",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor IIIB 90 kDa subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BRF1",
                    "type": "recommended"
                },
                {
                    "name": "BRF-1",
                    "type": "synonym"
                },
                {
                    "name": "BRF1",
                    "type": "synonym"
                },
                {
                    "name": "BRF",
                    "type": "synonym"
                },
                {
                    "name": "CFDS",
                    "type": "synonym"
                },
                {
                    "name": "GTF3B",
                    "type": "synonym"
                },
                {
                    "name": "HEL-S-76p",
                    "type": "synonym"
                },
                {
                    "name": "TAF3B2",
                    "type": "synonym"
                },
                {
                    "name": "TAF3C",
                    "type": "synonym"
                },
                {
                    "name": "TAFIII90",
                    "type": "synonym"
                },
                {
                    "name": "TF3B90",
                    "type": "synonym"
                },
                {
                    "name": "TFIIIB90",
                    "type": "synonym"
                },
                {
                    "name": "hBRF",
                    "type": "synonym"
                }
            ],
            "record_id": "Q92994-1",
            "evidence": [
                {
                    "id": "616202",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616202"
                },
                {
                    "id": "0080898",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080898"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P29056-1",
            "uniprot_ac": "P29056",
            "uniprot_id": "TF3B_YEAST",
            "refseq_ac": "NP_011762",
            "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 IIIB 70 kDa subunit",
                    "type": "recommended"
                },
                {
                    "name": "B-related factor 1",
                    "type": "synonym"
                },
                {
                    "name": "BRF-1",
                    "type": "synonym"
                },
                {
                    "name": "TFIIIB",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor TFIIIB subunit BRF1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BRF1",
                    "type": "recommended"
                },
                {
                    "name": "BRF1",
                    "type": "synonym"
                },
                {
                    "name": "PCF4",
                    "type": "synonym"
                },
                {
                    "name": "TDS4",
                    "type": "synonym"
                }
            ],
            "record_id": "P29056-1",
            "evidence": [
                {
                    "id": "0080898",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080898"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LQE8-1",
            "uniprot_ac": "A0ABK0LQE8",
            "uniprot_id": "A0ABK0LQE8_RAT",
            "refseq_ac": "NP_001386434",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription factor IIIB 90 kDa subunit",
                    "type": "recommended"
                },
                {
                    "name": "B-related factor 1",
                    "type": "synonym"
                },
                {
                    "name": "BRF1 homolog, subunit of RNA polymerase III transcription initiation factor IIIB",
                    "type": "synonym"
                },
                {
                    "name": "BRF1, RNA polymerase III transcription initiation factor 90 subunit",
                    "type": "synonym"
                },
                {
                    "name": "BRF1, RNA polymerase III transcription initiation factor subunit",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor IIIB 90 kDa subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Brf1",
                    "type": "recommended"
                },
                {
                    "name": "Brf1",
                    "type": "synonym"
                }
            ],
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                    "id": "0080898",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0080898"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VEL2-1",
            "uniprot_ac": "Q9VEL2",
            "uniprot_id": "Q9VEL2_DROME",
            "refseq_ac": "NP_001163636",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "B-related factor 1",
                    "type": "recommended"
                },
                {
                    "name": "Brf RNA polymerase III subunit, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "Brf-PB",
                    "type": "synonym"
                },
                {
                    "name": "CG31256-PB",
                    "type": "synonym"
                },
                {
                    "name": "RNA Pol III transcription factor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Brf",
                    "type": "recommended"
                },
                {
                    "name": "BRF1",
                    "type": "synonym"
                },
                {
                    "name": "BRF",
                    "type": "synonym"
                },
                {
                    "name": "Brf1",
                    "type": "synonym"
                },
                {
                    "name": "Brf",
                    "type": "synonym"
                },
                {
                    "name": "CG31256",
                    "type": "synonym"
                },
                {
                    "name": "CG4155",
                    "type": "synonym"
                },
                {
                    "name": "CG5419",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG31256",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG31256",
                    "type": "synonym"
                },
                {
                    "name": "TFIIIB",
                    "type": "synonym"
                },
                {
                    "name": "brf",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VEL2-1",
            "evidence": [
                {
                    "id": "0080898",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080898"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080898"
}