{
    "disease_id": "DOID:0050654",
    "recommended_name": {
        "id": "DOID:0050654",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050654",
        "name": "Baller-Gerold syndrome",
        "description": "A synostosis characterized by coronal craniosynostosis, short stature, and aplasia or hypoplasia of the radial bone."
    },
    "synonyms": [
        {
            "id": "MONDO:0009039",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009039",
            "name": "Baller-Gerold syndrome",
            "description": "Baller-Gerold syndrome is characterized by the association of coronal craniosynostosis with radial ray anomalies (oligodactyly, aplasia or hypoplasia of the thumb, aplasia or hypoplasia of the radius)."
        },
        {
            "id": "MONDO:0009039",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009039",
            "name": "Baller-Gerold syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009039",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009039",
            "name": "BGS",
            "description": ""
        },
        {
            "id": "MIM:218600",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/218600",
            "name": "Baller-Gerold syndrome",
            "description": "Baller-Gerold syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050654"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050654",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050654",
            "categories": []
        },
        {
            "id": "MONDO:0009039",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009039",
            "categories": []
        },
        {
            "id": "MIM:218600",
            "database": "MIM",
            "url": "https://www.omim.org/entry/218600",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E7F2M7-1",
            "uniprot_ac": "E7F2M7",
            "uniprot_id": "E7F2M7_DANRE",
            "refseq_ac": "XP_001920631",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATP-dependent DNA helicase Q4",
                    "type": "recommended"
                },
                {
                    "name": "5.6.2.4",
                    "type": "synonym"
                },
                {
                    "name": "ATP-dependent DNA helicase Q4",
                    "type": "synonym"
                },
                {
                    "name": "DNA 3'-5' helicase RecQ4",
                    "type": "synonym"
                },
                {
                    "name": "DNA helicase, RecQ-like type 4",
                    "type": "synonym"
                },
                {
                    "name": "RecQ protein-like 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "recql4",
                    "type": "recommended"
                },
                {
                    "name": "recql4",
                    "type": "synonym"
                }
            ],
            "record_id": "E7F2M7-1",
            "evidence": [
                {
                    "id": "0050654",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050654"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q75NR7-1",
            "uniprot_ac": "Q75NR7",
            "uniprot_id": "RECQ4_MOUSE",
            "refseq_ac": "NP_478121",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATP-dependent DNA helicase Q4",
                    "type": "recommended"
                },
                {
                    "name": "5.6.2.4",
                    "type": "synonym"
                },
                {
                    "name": "ATP-dependent DNA helicase Q4 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "ATP-dependent DNA helicase Q4",
                    "type": "synonym"
                },
                {
                    "name": "DNA 3'-5' helicase RecQ4",
                    "type": "synonym"
                },
                {
                    "name": "DNA helicase, RecQ-like type 4",
                    "type": "synonym"
                },
                {
                    "name": "RecQ helicase protein-like 4",
                    "type": "synonym"
                },
                {
                    "name": "RecQ protein-like 4",
                    "type": "synonym"
                },
                {
                    "name": "RecQ4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Recql4",
                    "type": "recommended"
                },
                {
                    "name": "RecQ4",
                    "type": "synonym"
                },
                {
                    "name": "Recq4",
                    "type": "synonym"
                },
                {
                    "name": "Recql4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q75NR7-1",
            "evidence": [
                {
                    "id": "0050654",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050654"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O94761-1",
            "uniprot_ac": "O94761",
            "uniprot_id": "RECQ4_HUMAN",
            "refseq_ac": "NP_004251",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATP-dependent DNA helicase Q4",
                    "type": "recommended"
                },
                {
                    "name": "5.6.2.4",
                    "type": "synonym"
                },
                {
                    "name": "ATP-dependent DNA helicase Q4 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "ATP-dependent DNA helicase Q4",
                    "type": "synonym"
                },
                {
                    "name": "DNA 3'-5' helicase RecQ4",
                    "type": "synonym"
                },
                {
                    "name": "DNA helicase, RecQ-like type 4",
                    "type": "synonym"
                },
                {
                    "name": "DNA helicase, RecQ-like, type 4",
                    "type": "synonym"
                },
                {
                    "name": "RTS",
                    "type": "synonym"
                },
                {
                    "name": "RecQ helicase-like 4",
                    "type": "synonym"
                },
                {
                    "name": "RecQ protein-like 4",
                    "type": "synonym"
                },
                {
                    "name": "RecQ4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RECQL4",
                    "type": "recommended"
                },
                {
                    "name": "RECQ4",
                    "type": "synonym"
                },
                {
                    "name": "RECQL4",
                    "type": "synonym"
                }
            ],
            "record_id": "O94761-1",
            "evidence": [
                {
                    "id": "218600",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/218600"
                },
                {
                    "id": "0050654",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050654"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q05549-1",
            "uniprot_ac": "Q05549",
            "uniprot_id": "HRQ1_YEAST",
            "refseq_ac": "NP_010577",
            "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": "ATP-dependent helicase HRQ1",
                    "type": "recommended"
                },
                {
                    "name": "5.6.2.4",
                    "type": "synonym"
                },
                {
                    "name": "ATP-dependent 3'-5' DNA helicase",
                    "type": "synonym"
                },
                {
                    "name": "DNA 3'-5' helicase HRQ1",
                    "type": "synonym"
                },
                {
                    "name": "Homologous to recQ protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HRQ1",
                    "type": "recommended"
                },
                {
                    "name": "HRQ1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q05549-1",
            "evidence": [
                {
                    "id": "0050654",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050654"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0L7P8-1",
            "uniprot_ac": "A0ABK0L7P8",
            "uniprot_id": "A0ABK0L7P8_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": "DNA 3'-5' helicase",
                    "type": "recommended"
                },
                {
                    "name": "5.6.2.4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Recql4",
                    "type": "recommended"
                }
            ],
            "record_id": "A0ABK0L7P8-1",
            "evidence": [
                {
                    "id": "0050654",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050654"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VSE6-1",
            "uniprot_ac": "Q9VSE6",
            "uniprot_id": "Q9VSE6_DROME",
            "refseq_ac": "NP_652607",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATP-dependent DNA helicase Q4",
                    "type": "recommended"
                },
                {
                    "name": "5.6.2.4",
                    "type": "synonym"
                },
                {
                    "name": "CG7487-PA",
                    "type": "synonym"
                },
                {
                    "name": "DNA 3'-5' helicase RecQ4",
                    "type": "synonym"
                },
                {
                    "name": "DNA helicase, RecQ-like type 4",
                    "type": "synonym"
                },
                {
                    "name": "RecQ protein-like 4",
                    "type": "synonym"
                },
                {
                    "name": "RecQ4 helicase",
                    "type": "synonym"
                },
                {
                    "name": "RecQ4-PA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RecQ4",
                    "type": "recommended"
                },
                {
                    "name": "CG7487",
                    "type": "synonym"
                },
                {
                    "name": "DmRECQ4",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7487",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG7487",
                    "type": "synonym"
                },
                {
                    "name": "RECQ4",
                    "type": "synonym"
                },
                {
                    "name": "RECQL4",
                    "type": "synonym"
                },
                {
                    "name": "RecQ4",
                    "type": "synonym"
                },
                {
                    "name": "cg7487",
                    "type": "synonym"
                },
                {
                    "name": "dRecQ4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VSE6-1",
            "evidence": [
                {
                    "id": "0050654",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050654"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050654"
}