{
    "disease_id": "DOID:0060970",
    "recommended_name": {
        "id": "DOID:0060970",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060970",
        "name": "Cornelia de Lange syndrome 6",
        "description": "A Cornelia de Lange syndrome characterized by malformations affecting multiple systems that has_material_basis_in heterozygous mutation in the BRD4 gene on chromosome 19p13."
    },
    "synonyms": [
        {
            "id": "MONDO:0957921",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0957921",
            "name": "Cornelia de Lange syndrome 6",
            "description": ""
        },
        {
            "id": "MIM:620568",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620568",
            "name": "Cornelia de Lange syndrome 6",
            "description": "Cornelia de Lange syndrome 6"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060970"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060970",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060970",
            "categories": []
        },
        {
            "id": "MONDO:0957921",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0957921",
            "categories": []
        },
        {
            "id": "MIM:620568",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620568",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1R5H6-1",
            "uniprot_ac": "F1R5H6",
            "uniprot_id": "BRD4_DANRE",
            "refseq_ac": "NP_001104751",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Bromodomain-containing protein 4",
                    "type": "recommended"
                },
                {
                    "name": "bromodomain 4",
                    "type": "synonym"
                },
                {
                    "name": "bromodomain-containing protein 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "brd4",
                    "type": "recommended"
                },
                {
                    "name": "brd4",
                    "type": "synonym"
                },
                {
                    "name": "fb18g03",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb18g03",
                    "type": "synonym"
                }
            ],
            "record_id": "F1R5H6-1",
            "evidence": [
                {
                    "id": "0060970",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060970"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9ESU6-1",
            "uniprot_ac": "Q9ESU6",
            "uniprot_id": "BRD4_MOUSE",
            "refseq_ac": "NP_065254",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Bromodomain-containing protein 4",
                    "type": "recommended"
                },
                {
                    "name": "MCAP",
                    "type": "synonym"
                },
                {
                    "name": "Mitotic chromosome-associated protein",
                    "type": "synonym"
                },
                {
                    "name": "bromodomain-containing 5",
                    "type": "synonym"
                },
                {
                    "name": "bromodomain-containing protein 4 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "bromodomain-containing protein 4",
                    "type": "synonym"
                },
                {
                    "name": "fsh-like protein",
                    "type": "synonym"
                },
                {
                    "name": "mitotic chromosome-associated protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Brd4",
                    "type": "recommended"
                },
                {
                    "name": "Brd4",
                    "type": "synonym"
                },
                {
                    "name": "Brd5",
                    "type": "synonym"
                },
                {
                    "name": "HUNK1",
                    "type": "synonym"
                },
                {
                    "name": "MCAP",
                    "type": "synonym"
                },
                {
                    "name": "Mcap",
                    "type": "synonym"
                },
                {
                    "name": "WI-11513",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9ESU6-1",
            "evidence": [
                {
                    "id": "0060970",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060970"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O60885-1",
            "uniprot_ac": "O60885",
            "uniprot_id": "BRD4_HUMAN",
            "refseq_ac": "NP_001317313",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Bromodomain-containing protein 4",
                    "type": "recommended"
                },
                {
                    "name": "Protein HUNK1",
                    "type": "synonym"
                },
                {
                    "name": "bromodomain-containing protein 4 isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "bromodomain-containing protein 4",
                    "type": "synonym"
                },
                {
                    "name": "chromosome-associated protein",
                    "type": "synonym"
                },
                {
                    "name": "female sterile homeotic related gene 4",
                    "type": "synonym"
                },
                {
                    "name": "mitotic chromosome-associated protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BRD4",
                    "type": "recommended"
                },
                {
                    "name": "BRD4",
                    "type": "synonym"
                },
                {
                    "name": "CAP",
                    "type": "synonym"
                },
                {
                    "name": "CDLS6",
                    "type": "synonym"
                },
                {
                    "name": "FSHRG4",
                    "type": "synonym"
                },
                {
                    "name": "HUNK1",
                    "type": "synonym"
                },
                {
                    "name": "HUNKI",
                    "type": "synonym"
                },
                {
                    "name": "MCAP",
                    "type": "synonym"
                }
            ],
            "record_id": "O60885-1",
            "evidence": [
                {
                    "id": "620568",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620568"
                },
                {
                    "id": "0060970",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060970"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q07442-1",
            "uniprot_ac": "Q07442",
            "uniprot_id": "BDF2_YEAST",
            "refseq_ac": "NP_010213",
            "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": "Bromodomain-containing factor 2",
                    "type": "recommended"
                },
                {
                    "name": "Bdf2p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BDF2",
                    "type": "recommended"
                },
                {
                    "name": "BDF2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q07442-1",
            "evidence": [
                {
                    "id": "0060970",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060970"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P35817-1",
            "uniprot_ac": "P35817",
            "uniprot_id": "BDF1_YEAST",
            "refseq_ac": "NP_013503",
            "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": "Bromodomain-containing factor 1",
                    "type": "recommended"
                },
                {
                    "name": "chromatin-binding protein BDF1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BDF1",
                    "type": "recommended"
                },
                {
                    "name": "BDF1",
                    "type": "synonym"
                },
                {
                    "name": "L8084.18",
                    "type": "synonym"
                }
            ],
            "record_id": "P35817-1",
            "evidence": [
                {
                    "id": "0060970",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060970"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZGX8-1",
            "uniprot_ac": "D3ZGX8",
            "uniprot_id": "D3ZGX8_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Bromodomain containing 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Brd4",
                    "type": "recommended"
                }
            ],
            "record_id": "D3ZGX8-1",
            "evidence": [
                {
                    "id": "0060970",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060970"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P13709-1",
            "uniprot_ac": "P13709",
            "uniprot_id": "FSH_DROME",
            "refseq_ac": "NP_001162699",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homeotic protein female sterile",
                    "type": "recommended"
                },
                {
                    "name": "CG2252-PF",
                    "type": "synonym"
                },
                {
                    "name": "Fragile-chorion membrane protein",
                    "type": "synonym"
                },
                {
                    "name": "anon-fast-evolving-1G2",
                    "type": "synonym"
                },
                {
                    "name": "female sterile (1) homeotic, isoform F",
                    "type": "synonym"
                },
                {
                    "name": "female sterile (1) homoeotic",
                    "type": "synonym"
                },
                {
                    "name": "female sterile 1 homeotic",
                    "type": "synonym"
                },
                {
                    "name": "female sterile homeotic",
                    "type": "synonym"
                },
                {
                    "name": "fs(1)h-PF",
                    "type": "synonym"
                },
                {
                    "name": "rancor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "fs(1)h",
                    "type": "recommended"
                },
                {
                    "name": "26A",
                    "type": "synonym"
                },
                {
                    "name": "Brd4",
                    "type": "synonym"
                },
                {
                    "name": "CG2252",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG2252",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG2252",
                    "type": "synonym"
                },
                {
                    "name": "FSH-S",
                    "type": "synonym"
                },
                {
                    "name": "FSH",
                    "type": "synonym"
                },
                {
                    "name": "Fs(1)h-L",
                    "type": "synonym"
                },
                {
                    "name": "Fs(1)h/Brd4",
                    "type": "synonym"
                },
                {
                    "name": "Fs(1)hL",
                    "type": "synonym"
                },
                {
                    "name": "Fs(1)hS",
                    "type": "synonym"
                },
                {
                    "name": "Fs(1)h",
                    "type": "synonym"
                },
                {
                    "name": "Fsh",
                    "type": "synonym"
                },
                {
                    "name": "N72",
                    "type": "synonym"
                },
                {
                    "name": "ORE-1",
                    "type": "synonym"
                },
                {
                    "name": "anon-EST:Liang-1.81",
                    "type": "synonym"
                },
                {
                    "name": "anon-EST:fe1G2",
                    "type": "synonym"
                },
                {
                    "name": "clone 1.81",
                    "type": "synonym"
                },
                {
                    "name": "dBRD4",
                    "type": "synonym"
                },
                {
                    "name": "fs(1)1456",
                    "type": "synonym"
                },
                {
                    "name": "fs(1)26/26A",
                    "type": "synonym"
                },
                {
                    "name": "fs(1)M16",
                    "type": "synonym"
                },
                {
                    "name": "fs(1)R10.4",
                    "type": "synonym"
                },
                {
                    "name": "fs(1)h",
                    "type": "synonym"
                },
                {
                    "name": "fs[1]h",
                    "type": "synonym"
                },
                {
                    "name": "fsh",
                    "type": "synonym"
                },
                {
                    "name": "fst(1)h",
                    "type": "synonym"
                },
                {
                    "name": "l(1)7Da",
                    "type": "synonym"
                },
                {
                    "name": "l(1)G0093",
                    "type": "synonym"
                },
                {
                    "name": "l(1)G0495",
                    "type": "synonym"
                },
                {
                    "name": "rnc",
                    "type": "synonym"
                }
            ],
            "record_id": "P13709-1",
            "evidence": [
                {
                    "id": "0060970",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060970"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060970"
}