{
    "disease_id": "DOID:0050568",
    "recommended_name": {
        "id": "DOID:0050568",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050568",
        "name": "spondylocostal dysostosis",
        "description": "A dysostosis that results_in abnormal development located_in vertebrae or located_in ribs. The bones of the spine do not develop properly, which causes them to be misshapen and abnormally joined together."
    },
    "synonyms": [
        {
            "id": "DOID:0050568",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050568",
            "name": "Jarcho-Levin syndrome",
            "description": ""
        },
        {
            "id": "DOID:0050568",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050568",
            "name": "spondylothoracic dysostosis",
            "description": ""
        },
        {
            "id": "DOID:0050568",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050568",
            "name": "spondylothoracic dysplasia",
            "description": ""
        },
        {
            "id": "DOID:0050568",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050568",
            "name": "costovertebral dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0020692",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020692",
            "name": "spondylocostal dysostosis 1, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0020692",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020692",
            "name": "spondylocostal dysostosis 1, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0020692",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020692",
            "name": "SCDO1",
            "description": ""
        },
        {
            "id": "MONDO:0020692",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020692",
            "name": "spondylothoracic dysostosis",
            "description": ""
        },
        {
            "id": "MONDO:0020692",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020692",
            "name": "spondylothoracic dysplasia",
            "description": ""
        },
        {
            "id": "MIM:277300",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/277300",
            "name": "Spondylocostal dysostosis 1, autosomal recessive",
            "description": "Spondylocostal dysostosis 1, autosomal recessive"
        }
    ],
    "children": [
        {
            "id": "DOID:0112360",
            "label": "spondylocostal dysostosis 6",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0112361",
            "label": "spondylocostal dysostosis 3",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0112362",
            "label": "spondylocostal dysostosis 2",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0112363",
            "label": "spondylocostal dysostosis 5",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0112364",
            "label": "spondylocostal dysostosis 4",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0112365",
            "label": "spondylocostal dysostosis 1",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0112365",
        "DOID:0050568",
        "DOID:0112362",
        "DOID:0112360",
        "DOID:0112363",
        "DOID:0112364",
        "DOID:0112361"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050568",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050568",
            "categories": []
        },
        {
            "id": "MONDO:0020692",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020692",
            "categories": []
        },
        {
            "id": "MIM:277300",
            "database": "MIM",
            "url": "https://www.omim.org/entry/277300",
            "categories": []
        }
    ],
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        {
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            "uniprot_ac": "Q9IAT6",
            "uniprot_id": "DLLC_DANRE",
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                    "glygen_name": "Zebrafish",
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                }
            ],
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                {
                    "name": "Delta-like protein C",
                    "type": "recommended"
                },
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                    "name": "DeltaC",
                    "type": "synonym"
                },
                {
                    "name": "beamter",
                    "type": "synonym"
                },
                {
                    "name": "bea",
                    "type": "synonym"
                },
                {
                    "name": "delC",
                    "type": "synonym"
                },
                {
                    "name": "delta-like protein C precursor",
                    "type": "synonym"
                },
                {
                    "name": "delta-like protein C",
                    "type": "synonym"
                }
            ],
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                    "name": "dlc",
                    "type": "recommended"
                },
                {
                    "name": "delC",
                    "type": "synonym"
                },
                {
                    "name": "dlc",
                    "type": "synonym"
                }
            ],
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                    "id": "0050568",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050568"
                }
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                    "glygen_name": "Zebrafish",
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                }
            ],
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                {
                    "name": "Protein ripply2",
                    "type": "recommended"
                },
                {
                    "name": "protein ripply2",
                    "type": "synonym"
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            ],
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                {
                    "name": "ripply2",
                    "type": "recommended"
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                {
                    "name": "ripply2",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-152c2.8",
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                {
                    "id": "0050568",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0050568"
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            ]
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                }
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                {
                    "name": "Protein ripply1",
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                {
                    "name": "protein ripply1",
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                {
                    "name": "ripply1",
                    "type": "recommended"
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                {
                    "name": "ripply1",
                    "type": "synonym"
                }
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                {
                    "id": "0050568",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050568"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O57409-1",
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                    "name": "Danio rerio",
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                }
            ],
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                {
                    "name": "Delta-like protein B",
                    "type": "recommended"
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                {
                    "name": "DeltaB",
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                {
                    "name": "delta-like protein B precursor",
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                {
                    "name": "delta-like protein B",
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            ],
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                    "name": "dlb",
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                {
                    "name": "dlb",
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                },
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                    "name": "etID309872.5",
                    "type": "synonym"
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                {
                    "name": "sc:d0400",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0050568",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0050568"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BKT2-1",
            "uniprot_ac": "Q8BKT2",
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                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription factor HES-7",
                    "type": "recommended"
                },
                {
                    "name": "Hairy and enhancer of split 7",
                    "type": "synonym"
                },
                {
                    "name": "bHLH factor Hes7",
                    "type": "synonym"
                },
                {
                    "name": "hairy and enhancer of split 7",
                    "type": "synonym"
                },
                {
                    "name": "mHes7",
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                {
                    "name": "transcription factor HES-7 isoform 1",
                    "type": "synonym"
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                {
                    "name": "transcription factor HES-7",
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                    "name": "Hes7",
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                {
                    "name": "Hes7",
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                {
                    "name": "bHLHb37",
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                {
                    "id": "0050568",
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        {
            "uniprot_canonical_ac": "O88516-1",
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                    "name": "Mus musculus",
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                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                    "name": "Delta-like protein 3",
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                    "name": "Delta3",
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                {
                    "name": "Drosophila Delta homolog 3",
                    "type": "synonym"
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                {
                    "name": "M-Delta-3",
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                    "name": "delta-like 3",
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                {
                    "name": "delta-like protein 3 precursor",
                    "type": "synonym"
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                    "name": "delta-like protein 3",
                    "type": "synonym"
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                {
                    "name": "delta3",
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                {
                    "name": "drosophila Delta homolog 3",
                    "type": "synonym"
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                    "name": "Dll3",
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                {
                    "name": "Dll3",
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                },
                {
                    "name": "pudgy",
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                    "name": "pu",
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                    "id": "0050568",
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        {
            "uniprot_canonical_ac": "Q2WG76-1",
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                    "name": "Mus musculus",
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                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                    "name": "Protein ripply2",
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                    "name": "protein ripply2 isoform 3",
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                    "name": "protein ripply2",
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                    "name": "C030002E08Rik",
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                {
                    "name": "Gm1122",
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                    "name": "Ripply2",
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                    "id": "0050568",
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            "uniprot_canonical_ac": "Q9NYJ7-1",
            "uniprot_ac": "Q9NYJ7",
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                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
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                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                    "name": "Delta-like protein 3",
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                    "name": "Delta3",
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                    "name": "Drosophila Delta homolog 3",
                    "type": "synonym"
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                    "name": "delta-like protein 3 isoform 1 precursor",
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                {
                    "name": "delta-like protein 3",
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                    "name": "delta3",
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                {
                    "name": "drosophila Delta homolog 3",
                    "type": "synonym"
                }
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                    "name": "DLL3",
                    "type": "recommended"
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                {
                    "name": "DLL3",
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                    "name": "SCDO1",
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                    "id": "277300",
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                {
                    "id": "0050568",
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                    "name": "Rattus norvegicus",
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                    "name": "Ripply transcriptional repressor 2",
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                    "name": "protein ripply2 isoform 1",
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                    "name": "Ripply2",
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                    "name": "RGD1308746",
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                {
                    "name": "Ripply2",
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                    "id": "0050568",
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                    "name": "Delta-like protein 3",
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                    "name": "delta3",
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                    "name": "drosophila Delta homolog 3",
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                    "id": "0050568",
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                    "name": "Hes family bHLH transcription factor 7",
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                    "id": "0050568",
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                    "name": "Rattus norvegicus",
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                }
            ],
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                    "name": "Importin subunit beta-1",
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                    "name": "Importin beta",
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                {
                    "name": "Karyopherin subunit beta-1",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear factor p97",
                    "type": "synonym"
                },
                {
                    "name": "PTAC97",
                    "type": "synonym"
                },
                {
                    "name": "Pore targeting complex 97 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "importin subunit beta-1",
                    "type": "synonym"
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                    "name": "karyopherin (importin) beta 1",
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                    "name": "karyopherin,beta 1",
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                {
                    "name": "nuclear factor P97",
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                {
                    "name": "pore targeting complex 97 kDa subunit",
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            ],
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                    "name": "Kpnb1",
                    "type": "recommended"
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                    "name": "Impnb",
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                {
                    "name": "Kpnb1",
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                    "id": "0050568",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0050568"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5TAB7-1",
            "uniprot_ac": "Q5TAB7",
            "uniprot_id": "RIPP2_HUMAN",
            "refseq_ac": "NP_001009994",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein ripply2",
                    "type": "recommended"
                },
                {
                    "name": "protein ripply2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "protein ripply2",
                    "type": "synonym"
                },
                {
                    "name": "ripply2 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RIPPLY2",
                    "type": "recommended"
                },
                {
                    "name": "C6orf159",
                    "type": "synonym"
                },
                {
                    "name": "RIPPLY2",
                    "type": "synonym"
                },
                {
                    "name": "SCDO6",
                    "type": "synonym"
                },
                {
                    "name": "dJ237I15.1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5TAB7-1",
            "evidence": [
                {
                    "id": "0050568",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050568"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9BYE0-1",
            "uniprot_ac": "Q9BYE0",
            "uniprot_id": "HES7_HUMAN",
            "refseq_ac": "NP_001159439",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription factor HES-7",
                    "type": "recommended"
                },
                {
                    "name": "Class B basic helix-loop-helix protein 37",
                    "type": "synonym"
                },
                {
                    "name": "Hairy and enhancer of split 7",
                    "type": "synonym"
                },
                {
                    "name": "bHLH factor Hes7",
                    "type": "synonym"
                },
                {
                    "name": "bHLHb37",
                    "type": "synonym"
                },
                {
                    "name": "class B basic helix-loop-helix protein 37",
                    "type": "synonym"
                },
                {
                    "name": "hHes7",
                    "type": "synonym"
                },
                {
                    "name": "hairy and enhancer of split 7",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor HES-7 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor HES-7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HES7",
                    "type": "recommended"
                },
                {
                    "name": "BHLHB37",
                    "type": "synonym"
                },
                {
                    "name": "HES7",
                    "type": "synonym"
                },
                {
                    "name": "SCDO4",
                    "type": "synonym"
                },
                {
                    "name": "bHLHb37",
                    "type": "synonym"
                },
                {
                    "name": "hHes7",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9BYE0-1",
            "evidence": [
                {
                    "id": "0050568",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050568"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050568"
}