{
    "disease_id": "DOID:0060564",
    "recommended_name": {
        "id": "DOID:0060564",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060564",
        "name": "spinal disease",
        "description": "A bone disease that is located_in the spine."
    },
    "synonyms": [],
    "children": [
        {
            "id": "DOID:0050568",
            "label": "spondylocostal dysostosis",
            "link_status": true,
            "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": "DOID:0050648",
            "label": "atelosteogenesis",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060249",
            "label": "scoliosis",
            "link_status": true,
            "children": [
                {
                    "id": "DOID:0060250",
                    "label": "idiopathic scoliosis",
                    "link_status": true,
                    "children": []
                }
            ]
        },
        {
            "id": "DOID:0060645",
            "label": "chronic recurrent multifocal osteomyelitis",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080027",
            "label": "spondyloepimetaphyseal dysplasia",
            "link_status": true,
            "children": [
                {
                    "id": "DOID:0050812",
                    "label": "spondyloepimetaphyseal dysplasia, Pakistani type",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0051046",
                    "label": "spondyloepimetaphyseal dysplasia, Li-Shao-Li type",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0060490",
                    "label": "Schimke immuno-osseous dysplasia",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0080028",
                    "label": "spondyloepimetaphyseal dysplasia, Strudwick type",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0080030",
                    "label": "spondyloepimetaphyseal dysplasia, Missouri type",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0080576",
                    "label": "spondyloepimetaphyseal dysplasia, Genevieve-type",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0080942",
                    "label": "anauxetic dysplasia",
                    "link_status": false,
                    "children": [
                        {
                            "id": "DOID:0080962",
                            "label": "anauxetic dysplasia 2",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0080963",
                            "label": "anauxetic dysplasia 3",
                            "link_status": true,
                            "children": []
                        }
                    ]
                },
                {
                    "id": "DOID:0111167",
                    "label": "Dyggve-Melchior-Clausen disease",
                    "link_status": true,
                    "children": [
                        {
                            "id": "DOID:0060247",
                            "label": "Smith-McCort dysplasia",
                            "link_status": true,
                            "children": [
                                {
                                    "id": "DOID:0081270",
                                    "label": "Smith-McCort dysplasia 1",
                                    "link_status": true,
                                    "children": []
                                },
                                {
                                    "id": "DOID:0081271",
                                    "label": "Smith-McCort dysplasia 2",
                                    "link_status": true,
                                    "children": []
                                }
                            ]
                        }
                    ]
                },
                {
                    "id": "DOID:0111514",
                    "label": "metatropic dysplasia",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0112150",
                    "label": "X-linked spondyloepimetaphyseal dysplasia",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0112196",
                    "label": "spondylometaepiphyseal dysplasia, short limb-hand type",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0112197",
                    "label": "spondyloepimetaphyseal dysplasia with joint laxity",
                    "link_status": true,
                    "children": [
                        {
                            "id": "DOID:0112198",
                            "label": "spondyloepimetaphyseal dysplasia with joint laxity type 1",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0112199",
                            "label": "spondyloepimetaphyseal dysplasia with joint laxity type 2",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0112200",
                            "label": "spondyloepimetaphyseal dysplasia with joint laxity type 3",
                            "link_status": true,
                            "children": []
                        }
                    ]
                },
                {
                    "id": "DOID:5684",
                    "label": "spondyloepimetaphyseal dysplasia, Sponastrime type",
                    "link_status": true,
                    "children": []
                }
            ]
        },
        {
            "id": "DOID:0080050",
            "label": "acromesomelic dysplasia, Maroteaux type",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080054",
            "label": "achondrogenesis type IA",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080362",
            "label": "X-linked spondyloepiphyseal dysplasia tarda",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0090116",
            "label": "spondylocarpotarsal synostosis syndrome",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110633",
            "label": "rigid spine muscular dystrophy 1",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110938",
            "label": "autosomal dominant osteopetrosis 2",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:10426",
            "label": "Klippel-Feil syndrome",
            "link_status": true,
            "children": [
                {
                    "id": "DOID:0080589",
                    "label": "Klippel-Feil syndrome 1",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0080590",
                    "label": "Klippel-Feil syndrome 2",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0080591",
                    "label": "Klippel-Feil syndrome 3",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0080592",
                    "label": "Klippel-Feil syndrome 4",
                    "link_status": true,
                    "children": []
                }
            ]
        },
        {
            "id": "DOID:13300",
            "label": "Scheuermann's disease",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:14780",
            "label": "KBG syndrome",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:2247",
            "label": "spondylosis",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:2300",
            "label": "spondylolysis",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:4667",
            "label": "kyphosis",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:7147",
            "label": "ankylosing spondylitis",
            "link_status": true,
            "children": [
                {
                    "id": "DOID:0080603",
                    "label": "ankylosing spondylitis 1",
                    "link_status": true,
                    "children": []
                }
            ]
        }
    ],
    "id_list": [
        "DOID:0112361",
        "DOID:0111167",
        "DOID:0080589",
        "DOID:0081271",
        "DOID:0112362",
        "DOID:0080590",
        "DOID:0112364",
        "DOID:0111514",
        "DOID:0110633",
        "DOID:0080603",
        "DOID:2247",
        "DOID:0080963",
        "DOID:0080050",
        "DOID:0060645",
        "DOID:2300",
        "DOID:0112196",
        "DOID:0050648",
        "DOID:0112198",
        "DOID:0080028",
        "DOID:0080962",
        "DOID:0112360",
        "DOID:0080027",
        "DOID:0060564",
        "DOID:0060490",
        "DOID:0110938",
        "DOID:0080591",
        "DOID:0080592",
        "DOID:0080576",
        "DOID:0080054",
        "DOID:0090116",
        "DOID:13300",
        "DOID:0080030",
        "DOID:0080362",
        "DOID:0112200",
        "DOID:0112197",
        "DOID:0112199",
        "DOID:7147",
        "DOID:0080942",
        "DOID:0081270",
        "DOID:0050812",
        "DOID:0060250",
        "DOID:0051046",
        "DOID:0050568",
        "DOID:5684",
        "DOID:4667",
        "DOID:0112363",
        "DOID:0112150",
        "DOID:10426",
        "DOID:0112365",
        "DOID:0060247",
        "DOID:14780",
        "DOID:0060249"
    ],
    "unlinked_id_list": [
        "DOID:0080942"
    ],
    "crossref": [
        {
            "id": "DOID:0060564",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060564",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1QGL5-1",
            "uniprot_ac": "F1QGL5",
            "uniprot_id": "F1QGL5_DANRE",
            "refseq_ac": "XP_021325608",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Filamin-B isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "filamin-B isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "flnbb",
                    "type": "recommended"
                },
                {
                    "name": "flnbb",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QGL5-1",
            "evidence": [
                {
                    "id": "0060564",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060564"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "E7FEJ0-1",
            "uniprot_ac": "E7FEJ0",
            "uniprot_id": "E7FEJ0_DANRE",
            "refseq_ac": "NP_001269321",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "TSC complex subunit 1b",
                    "type": "synonym"
                },
                {
                    "name": "hamartin",
                    "type": "synonym"
                },
                {
                    "name": "tuberous sclerosis 1b",
                    "type": "synonym"
                },
                {
                    "name": "tuberous sclerosis 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tsc1b",
                    "type": "recommended"
                },
                {
                    "name": "fc38b04",
                    "type": "synonym"
                },
                {
                    "name": "tsc1b",
                    "type": "synonym"
                },
                {
                    "name": "tsc1",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc38b04",
                    "type": "synonym"
                }
            ],
            "record_id": "E7FEJ0-1",
            "evidence": [
                {
                    "id": "0060564",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060564"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M2BJK9-1",
            "uniprot_ac": "A0A8M2BJK9",
            "uniprot_id": "A0A8M2BJK9_DANRE",
            "refseq_ac": "XP_005171852",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "TSC complex subunit 1a isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tsc1a",
                    "type": "recommended"
                },
                {
                    "name": "fa99f04",
                    "type": "synonym"
                },
                {
                    "name": "tsc1a",
                    "type": "synonym"
                },
                {
                    "name": "wu:fa99f04",
                    "type": "synonym"
                },
                {
                    "name": "zgc:63657",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2BJK9-1",
            "evidence": [
                {
                    "id": "0060564",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060564"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9EP53-1",
            "uniprot_ac": "Q9EP53",
            "uniprot_id": "TSC1_MOUSE",
            "refseq_ac": "NP_001276504",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Hamartin",
                    "type": "recommended"
                },
                {
                    "name": "Tuberous sclerosis 1 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "hamartin isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "hamartin",
                    "type": "synonym"
                },
                {
                    "name": "tuberous sclerosis 1 protein homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tsc1",
                    "type": "recommended"
                },
                {
                    "name": "Kiaa0243",
                    "type": "synonym"
                },
                {
                    "name": "Tsc1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9EP53-1",
            "evidence": [
                {
                    "id": "0060564",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060564"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q80X90-1",
            "uniprot_ac": "Q80X90",
            "uniprot_id": "FLNB_MOUSE",
            "refseq_ac": "NP_001074896",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Filamin-B",
                    "type": "recommended"
                },
                {
                    "name": "ABP-280-like protein",
                    "type": "synonym"
                },
                {
                    "name": "Actin-binding-like protein",
                    "type": "synonym"
                },
                {
                    "name": "Beta-filamin",
                    "type": "synonym"
                },
                {
                    "name": "FLN-B",
                    "type": "synonym"
                },
                {
                    "name": "actin binding protein 278",
                    "type": "synonym"
                },
                {
                    "name": "actin-binding-like protein",
                    "type": "synonym"
                },
                {
                    "name": "beta-filamin",
                    "type": "synonym"
                },
                {
                    "name": "filamin-B isoform a",
                    "type": "synonym"
                },
                {
                    "name": "filamin-B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Flnb",
                    "type": "recommended"
                },
                {
                    "name": "Fln-b",
                    "type": "synonym"
                },
                {
                    "name": "Flnb",
                    "type": "synonym"
                }
            ],
            "record_id": "Q80X90-1",
            "evidence": [
                {
                    "id": "0060564",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060564"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P22005-1",
            "uniprot_ac": "P22005",
            "uniprot_id": "PENK_MOUSE",
            "refseq_ac": "NP_001002927",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Proenkephalin-A",
                    "type": "recommended"
                },
                {
                    "name": "BAM(8-22)",
                    "type": "synonym"
                },
                {
                    "name": "Bovine adrenal medulla peptide 20",
                    "type": "synonym"
                },
                {
                    "name": "Bovine adrenal medulla peptide 22",
                    "type": "synonym"
                },
                {
                    "name": "Bovine adrenal medulla peptide 8-22",
                    "type": "synonym"
                },
                {
                    "name": "OGF",
                    "type": "synonym"
                },
                {
                    "name": "Opioid growth factor",
                    "type": "synonym"
                },
                {
                    "name": "preproenkephalin 1",
                    "type": "synonym"
                },
                {
                    "name": "proenkephalin-A precursor",
                    "type": "synonym"
                },
                {
                    "name": "proenkephalin-A",
                    "type": "synonym"
                },
                {
                    "name": "spermatogenic-specific proenkephalin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Penk",
                    "type": "recommended"
                },
                {
                    "name": "ENK",
                    "type": "synonym"
                },
                {
                    "name": "PPA",
                    "type": "synonym"
                },
                {
                    "name": "Penk1",
                    "type": "synonym"
                },
                {
                    "name": "Penk",
                    "type": "synonym"
                }
            ],
            "record_id": "P22005-1",
            "evidence": [
                {
                    "id": "0060564",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060564"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P04094-1",
            "uniprot_ac": "P04094",
            "uniprot_id": "PENK_RAT",
            "refseq_ac": "NP_001416509",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Proenkephalin-A",
                    "type": "recommended"
                },
                {
                    "name": "BAM(8-22)",
                    "type": "synonym"
                },
                {
                    "name": "Bovine adrenal medulla peptide 20",
                    "type": "synonym"
                },
                {
                    "name": "Bovine adrenal medulla peptide 22",
                    "type": "synonym"
                },
                {
                    "name": "Bovine adrenal medulla peptide 8-22",
                    "type": "synonym"
                },
                {
                    "name": "OGF",
                    "type": "synonym"
                },
                {
                    "name": "Opioid growth factor",
                    "type": "synonym"
                },
                {
                    "name": "enkephalin",
                    "type": "synonym"
                },
                {
                    "name": "preproenkephalin 2",
                    "type": "synonym"
                },
                {
                    "name": "proenkephalin 1",
                    "type": "synonym"
                },
                {
                    "name": "proenkephalin 2",
                    "type": "synonym"
                },
                {
                    "name": "proenkephalin related sequence",
                    "type": "synonym"
                },
                {
                    "name": "proenkephalin-A precursor",
                    "type": "synonym"
                },
                {
                    "name": "proenkephalin-A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Penk",
                    "type": "recommended"
                },
                {
                    "name": "Enk",
                    "type": "synonym"
                },
                {
                    "name": "Penk-rs",
                    "type": "synonym"
                },
                {
                    "name": "Penk1",
                    "type": "synonym"
                },
                {
                    "name": "Penk2",
                    "type": "synonym"
                },
                {
                    "name": "Penk",
                    "type": "synonym"
                }
            ],
            "record_id": "P04094-1",
            "evidence": [
                {
                    "id": "0060564",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060564"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2JXT8-1",
            "uniprot_ac": "A0A0G2JXT8",
            "uniprot_id": "A0A0G2JXT8_RAT",
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    "association_flag": "1000",
    "record_id": "doid.0060564"
}