{
    "disease_id": "DOID:0080006",
    "recommended_name": {
        "id": "DOID:0080006",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080006",
        "name": "bone development disease",
        "description": "A bone disease that results_in abnormal growth and development located_in bone or located_in cartilage."
    },
    "synonyms": [],
    "children": [
        {
            "id": "DOID:0050592",
            "label": "asphyxiating thoracic dystrophy",
            "link_status": true,
            "children": [
                {
                    "id": "DOID:0080293",
                    "label": "short-rib thoracic dysplasia 18 with polydactyly",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0080295",
                    "label": "short-rib thoracic dysplasia 19 with or without polydactyly",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0110085",
                    "label": "asphyxiating thoracic dystrophy 1",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0110086",
                    "label": "asphyxiating thoracic dystrophy 2",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0110087",
                    "label": "asphyxiating thoracic dystrophy 3",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0110088",
                    "label": "asphyxiating thoracic dystrophy 4",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0110089",
                    "label": "asphyxiating thoracic dystrophy 5",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0110090",
                    "label": "short-rib thoracic dysplasia 7 with or without polydactyly",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0110091",
                    "label": "short-rib thoracic dysplasia 10 with or without polydactyly",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0110092",
                    "label": "short-rib thoracic dysplasia 6 with or without polydactyly",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0110093",
                    "label": "short-rib thoracic dysplasia 13 with or without polydactyly",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0110094",
                    "label": "short-rib thoracic dysplasia 8 with or without polydactyly",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0110095",
                    "label": "short-rib thoracic dysplasia 11 with or without polydactyly",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0110096",
                    "label": "short-rib thoracic dysplasia 14 with polydactyly",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0110097",
                    "label": "short-rib thoracic dysplasia 9 with or without polydactyly",
                    "link_status": true,
                    "children": []
                }
            ]
        },
        {
            "id": "DOID:0060930",
            "label": "developmental dysplasia of the hip",
            "link_status": false,
            "children": [
                {
                    "id": "DOID:0060931",
                    "label": "developmental dysplasia of the hip 1",
                    "link_status": true,
                    "children": []
                }
            ]
        },
        {
            "id": "DOID:0070316",
            "label": "Miura type epiphyseal chondrodysplasia",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080883",
            "label": "vitamin D-dependent rickets",
            "link_status": true,
            "children": [
                {
                    "id": "DOID:0080884",
                    "label": "vitamin D-dependent rickets type 2A",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0080886",
                    "label": "vitamin D-dependent rickets type 1A",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0080887",
                    "label": "vitamin D-dependent rickets type 1B",
                    "link_status": true,
                    "children": []
                }
            ]
        },
        {
            "id": "DOID:0081127",
            "label": "mandibuloacral dysplasia",
            "link_status": true,
            "children": [
                {
                    "id": "DOID:0081128",
                    "label": "mandibuloacral dysplasia type A lipodystrophy",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0081129",
                    "label": "mandibuloacral dysplasia type B lipodystrophy",
                    "link_status": true,
                    "children": []
                }
            ]
        },
        {
            "id": "DOID:0090020",
            "label": "split hand-foot malformation",
            "link_status": true,
            "children": [
                {
                    "id": "DOID:0090021",
                    "label": "split hand-foot malformation 1",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0090023",
                    "label": "split hand-foot malformation 4",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0090024",
                    "label": "split hand-foot malformation 1 with sensorineural hearing loss",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0090025",
                    "label": "split hand-foot malformation 3",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0090026",
                    "label": "split hand-foot malformation 6",
                    "link_status": true,
                    "children": []
                }
            ]
        },
        {
            "id": "DOID:0090067",
            "label": "Fuhrmann syndrome",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0090116",
            "label": "spondylocarpotarsal synostosis syndrome",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111673",
            "label": "Saul-Wilson syndrome",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111724",
            "label": "geleophysic dysplasia",
            "link_status": true,
            "children": [
                {
                    "id": "DOID:0111725",
                    "label": "geleophysic dysplasia 1",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0111726",
                    "label": "geleophysic dysplasia 2",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0111727",
                    "label": "geleophysic dysplasia 3",
                    "link_status": true,
                    "children": []
                }
            ]
        },
        {
            "id": "DOID:0111732",
            "label": "Eiken syndrome",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111782",
            "label": "otopalatodigital syndrome spectrum disorder",
            "link_status": true,
            "children": [
                {
                    "id": "DOID:0111783",
                    "label": "otopalatodigital syndrome type 1",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0111784",
                    "label": "otopalatodigital syndrome type 2",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0111785",
                    "label": "frontometaphyseal dysplasia",
                    "link_status": true,
                    "children": [
                        {
                            "id": "DOID:0111786",
                            "label": "frontometaphyseal dysplasia 1",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0111787",
                            "label": "frontometaphyseal dysplasia 2",
                            "link_status": true,
                            "children": []
                        }
                    ]
                },
                {
                    "id": "DOID:0111788",
                    "label": "Melnick-Needles syndrome",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0111789",
                    "label": "Frank-Ter Haar syndrome",
                    "link_status": true,
                    "children": []
                }
            ]
        },
        {
            "id": "DOID:0112120",
            "label": "SHOX-related short stature",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:11836",
            "label": "clubfoot",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:1934",
            "label": "dysostosis",
            "link_status": true,
            "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:0050581",
                    "label": "brachydactyly",
                    "link_status": true,
                    "children": [
                        {
                            "id": "DOID:0110964",
                            "label": "brachydactyly type A1",
                            "link_status": true,
                            "children": [
                                {
                                    "id": "DOID:0110977",
                                    "label": "brachydactyly type A1C",
                                    "link_status": true,
                                    "children": []
                                },
                                {
                                    "id": "DOID:0110978",
                                    "label": "brachydactyly type A1D",
                                    "link_status": true,
                                    "children": []
                                }
                            ]
                        },
                        {
                            "id": "DOID:0110965",
                            "label": "brachydactyly type A2",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0110967",
                            "label": "brachydactyly type A4",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0110969",
                            "label": "brachydactyly type B1",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0110970",
                            "label": "brachydactyly type C",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0110971",
                            "label": "brachydactyly type D",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0110972",
                            "label": "brachydactyly type E1",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0110975",
                            "label": "brachydactyly type B2",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0110976",
                            "label": "brachydactyly type E2",
                            "link_status": true,
                            "children": []
                        }
                    ]
                },
                {
                    "id": "DOID:0050789",
                    "label": "tarsal-carpal coalition syndrome",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0050794",
                    "label": "multiple synostoses syndrome",
                    "link_status": true,
                    "children": [
                        {
                            "id": "DOID:0081317",
                            "label": "multiple synostoses syndrome 1",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0081318",
                            "label": "multiple synostoses syndrome 2",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0081319",
                            "label": "multiple synostoses syndrome 3",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0081320",
                            "label": "multiple synostoses syndrome 4",
                            "link_status": true,
                            "children": []
                        }
                    ]
                },
                {
                    "id": "DOID:0060342",
                    "label": "acromelic frontonasal dysostosis",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0060379",
                    "label": "acrofacial dysostosis",
                    "link_status": false,
                    "children": [
                        {
                            "id": "DOID:0060353",
                            "label": "acrofacial dysostosis Cincinnati type",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0111571",
                            "label": "Weyers acrofacial dysostosis",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:5768",
                            "label": "Nager acrofacial dysostosis",
                            "link_status": true,
                            "children": []
                        }
                    ]
                },
                {
                    "id": "DOID:0090015",
                    "label": "Cenani-Lenz syndactyly syndrome",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0111350",
                    "label": "Laurin-Sandrow syndrome",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0111382",
                    "label": "ischiocoxopodopatellar syndrome",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:11971",
                    "label": "synostosis",
                    "link_status": false,
                    "children": [
                        {
                            "id": "DOID:0050654",
                            "label": "Baller-Gerold syndrome",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:11193",
                            "label": "syndactyly",
                            "link_status": true,
                            "children": [
                                {
                                    "id": "DOID:0060242",
                                    "label": "synpolydactyly",
                                    "link_status": true,
                                    "children": []
                                },
                                {
                                    "id": "DOID:0111813",
                                    "label": "syndactyly type 8",
                                    "link_status": true,
                                    "children": []
                                },
                                {
                                    "id": "DOID:0111816",
                                    "label": "syndactyly type 1",
                                    "link_status": true,
                                    "children": []
                                },
                                {
                                    "id": "DOID:0111817",
                                    "label": "syndactyly type 3",
                                    "link_status": true,
                                    "children": []
                                },
                                {
                                    "id": "DOID:0111818",
                                    "label": "syndactyly type 4",
                                    "link_status": true,
                                    "children": []
                                },
                                {
                                    "id": "DOID:0111819",
                                    "label": "syndactyly type 5",
                                    "link_status": true,
                                    "children": []
                                }
                            ]
                        },
                        {
                            "id": "DOID:12960",
                            "label": "acrocephalosyndactylia",
                            "link_status": true,
                            "children": [
                                {
                                    "id": "DOID:0060234",
                                    "label": "Carpenter syndrome",
                                    "link_status": true,
                                    "children": [
                                        {
                                            "id": "DOID:0061098",
                                            "label": "Carpenter syndrome 1",
                                            "link_status": true,
                                            "children": []
                                        },
                                        {
                                            "id": "DOID:0061099",
                                            "label": "Carpenter syndrome 2",
                                            "link_status": true,
                                            "children": []
                                        }
                                    ]
                                },
                                {
                                    "id": "DOID:14705",
                                    "label": "Pfeiffer syndrome",
                                    "link_status": true,
                                    "children": []
                                },
                                {
                                    "id": "DOID:14761",
                                    "label": "Greig cephalopolysyndactyly syndrome",
                                    "link_status": true,
                                    "children": []
                                },
                                {
                                    "id": "DOID:14768",
                                    "label": "Saethre-Chotzen syndrome",
                                    "link_status": true,
                                    "children": []
                                }
                            ]
                        },
                        {
                            "id": "DOID:2340",
                            "label": "craniosynostosis",
                            "link_status": true,
                            "children": [
                                {
                                    "id": "DOID:0060703",
                                    "label": "Muenke Syndrome",
                                    "link_status": true,
                                    "children": []
                                },
                                {
                                    "id": "DOID:0060912",
                                    "label": "craniosynostosis 7",
                                    "link_status": true,
                                    "children": []
                                },
                                {
                                    "id": "DOID:0061008",
                                    "label": "craniosynostosis 6",
                                    "link_status": true,
                                    "children": []
                                },
                                {
                                    "id": "DOID:0061009",
                                    "label": "craniosynostosis 2",
                                    "link_status": true,
                                    "children": []
                                },
                                {
                                    "id": "DOID:0061010",
                                    "label": "craniosynostosis 1",
                                    "link_status": true,
                                    "children": []
                                },
                                {
                                    "id": "DOID:0061011",
                                    "label": "craniosynostosis 3",
                                    "link_status": true,
                                    "children": []
                                },
                                {
                                    "id": "DOID:0061012",
                                    "label": "craniosynostosis 4",
                                    "link_status": true,
                                    "children": []
                                },
                                {
                                    "id": "DOID:0081289",
                                    "label": "Antley-Bixler syndrome",
                                    "link_status": true,
                                    "children": [
                                        {
                                            "id": "DOID:0050462",
                                            "label": "Antley-Bixler syndrome with disordered steroidogenesis",
                                            "link_status": true,
                                            "children": []
                                        },
                                        {
                                            "id": "DOID:0081290",
                                            "label": "Antley-Bixler syndrome without disordered steroidogenesis",
                                            "link_status": true,
                                            "children": []
                                        }
                                    ]
                                },
                                {
                                    "id": "DOID:2339",
                                    "label": "Crouzon syndrome",
                                    "link_status": true,
                                    "children": []
                                }
                            ]
                        }
                    ]
                },
                {
                    "id": "DOID:14669",
                    "label": "acrodysostosis",
                    "link_status": true,
                    "children": []
                }
            ]
        },
        {
            "id": "DOID:2256",
            "label": "osteochondrodysplasia",
            "link_status": true,
            "children": [
                {
                    "id": "DOID:0050463",
                    "label": "campomelic dysplasia",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0050603",
                    "label": "acheiropody",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0050604",
                    "label": "acrocapitofemoral dysplasia",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0050648",
                    "label": "atelosteogenesis",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0050680",
                    "label": "Boomerang dysplasia",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0050690",
                    "label": "brachyolmia",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0050775",
                    "label": "schneckenbecken dysplasia",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0060288",
                    "label": "omodysplasia",
                    "link_status": true,
                    "children": [
                        {
                            "id": "DOID:0080844",
                            "label": "omodysplasia 1",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0080845",
                            "label": "omodysplasia 2",
                            "link_status": true,
                            "children": []
                        }
                    ]
                },
                {
                    "id": "DOID:0060387",
                    "label": "chondrodysplasia Blomstrand type",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0060462",
                    "label": "Desbuquois dysplasia",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0060465",
                    "label": "fibrochondrogenesis",
                    "link_status": true,
                    "children": [
                        {
                            "id": "DOID:0080672",
                            "label": "fibrochondrogenesis 1",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0080673",
                            "label": "fibrochondrogenesis 2",
                            "link_status": true,
                            "children": []
                        }
                    ]
                },
                {
                    "id": "DOID:0060569",
                    "label": "hypertrichotic osteochondrodysplasia Cantu type",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0060609",
                    "label": "microcephalic osteodysplastic primordial dwarfism type II",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0060847",
                    "label": "Leri-Weill dyschondrosteosis",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0080019",
                    "label": "metaphyseal dysplasia",
                    "link_status": true,
                    "children": [
                        {
                            "id": "DOID:0080020",
                            "label": "Jansen's metaphyseal chondrodysplasia",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0080021",
                            "label": "Schmid metaphyseal chondrodysplasia",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0081111",
                            "label": "osteosclerotic metaphyseal dysplasia",
                            "link_status": true,
                            "children": []
                        }
                    ]
                },
                {
                    "id": "DOID:0080026",
                    "label": "otospondylomegaepiphyseal dysplasia, autosomal recessive",
                    "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:0080038",
                    "label": "pycnodysostosis",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0080041",
                    "label": "hypochondroplasia",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0080043",
                    "label": "achondrogenesis",
                    "link_status": true,
                    "children": [
                        {
                            "id": "DOID:0080054",
                            "label": "achondrogenesis type IA",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0080055",
                            "label": "achondrogenesis type IB",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0080056",
                            "label": "achondrogenesis type II",
                            "link_status": true,
                            "children": []
                        }
                    ]
                },
                {
                    "id": "DOID:0080044",
                    "label": "hypochondrogenesis",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0080045",
                    "label": "Kniest dysplasia",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0080047",
                    "label": "pseudoachondroplasia",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0080049",
                    "label": "acromesomelic dysplasia",
                    "link_status": false,
                    "children": [
                        {
                            "id": "DOID:0050790",
                            "label": "fibular hypoplasia and complex brachydactyly",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0080050",
                            "label": "acromesomelic dysplasia, Maroteaux type",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0080051",
                            "label": "acromesomelic dysplasia, Hunter-Thompson type",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0080052",
                            "label": "acromesomelic dysplasia, Grebe type",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0081237",
                            "label": "acromesomelic dysplasia 3",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0081238",
                            "label": "acromesomelic dysplasia 4",
                            "link_status": true,
                            "children": []
                        }
                    ]
                },
                {
                    "id": "DOID:0080664",
                    "label": "diaphyseal medullary stenosis with malignant fibrous histiocytoma",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0080677",
                    "label": "otospondylomegaepiphyseal dysplasia, autosomal dominant",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0080721",
                    "label": "calvarial doughnut lesions with bone fragility",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0080724",
                    "label": "Kenny-Caffey syndrome",
                    "link_status": true,
                    "children": [
                        {
                            "id": "DOID:0080722",
                            "label": "Kenny-Caffey syndrome type 1",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0080723",
                            "label": "Kenny-Caffey syndrome type 2",
                            "link_status": true,
                            "children": []
                        }
                    ]
                },
                {
                    "id": "DOID:0081431",
                    "label": "microcephaly, short stature, and limb abnormalities",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0090004",
                    "label": "progressive pseudorheumatoid arthropathy of childhood",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0090032",
                    "label": "Silverman-Handmaker type dyssegmental dysplasia",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0111243",
                    "label": "acromicric dysplasia",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0111367",
                    "label": "Beukes hip dysplasia",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0111508",
                    "label": "Torrance type platyspondylic dysplasia",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0111512",
                    "label": "metachondromatosis",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0111513",
                    "label": "metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0111532",
                    "label": "osteoglophonic dysplasia",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0111533",
                    "label": "gnathodiaphyseal dysplasia",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0111539",
                    "label": "parastremmatic dwarfism",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0112195",
                    "label": "spondyloperipheral dysplasia",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0112224",
                    "label": "chondrodysplasia with joint dislocations gPAPP type",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0112280",
                    "label": "spondyloepiphyseal dysplasia",
                    "link_status": false,
                    "children": [
                        {
                            "id": "DOID:0050813",
                            "label": "spondyloepiphyseal dysplasia with congenital joint dislocations",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0111553",
                            "label": "spondyloepiphyseal dysplasia Maroteaux type",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0112281",
                            "label": "spondyloepiphyseal dysplasia Stanescu type",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0112282",
                            "label": "spondyloepiphyseal dysplasia Kimberley type",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0112283",
                            "label": "spondyloepiphyseal dysplasia Kondo-Fu type",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0112284",
                            "label": "spondyloepiphyseal dysplasia tarda",
                            "link_status": false,
                            "children": [
                                {
                                    "id": "DOID:0080362",
                                    "label": "X-linked spondyloepiphyseal dysplasia tarda",
                                    "link_status": true,
                                    "children": []
                                }
                            ]
                        },
                        {
                            "id": "DOID:14789",
                            "label": "spondyloepiphyseal dysplasia congenita",
                            "link_status": true,
                            "children": []
                        }
                    ]
                },
                {
                    "id": "DOID:0112295",
                    "label": "spondylometaphyseal dysplasia",
                    "link_status": true,
                    "children": [
                        {
                            "id": "DOID:0111554",
                            "label": "spondylometaphyseal dysplasia Kozlowski type",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0112296",
                            "label": "spondylometaphyseal dysplasia Algerian type",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0112297",
                            "label": "spondylometaphyseal dysplasia corner fracture type",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0112298",
                            "label": "spondylometaphyseal dysplasia Sedaghatian type",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0112299",
                            "label": "axial spondylometaphyseal dysplasia",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0112300",
                            "label": "spondylometaphyseal dysplasia with cone-rod dystrophy",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0112303",
                            "label": "spondylometaphyseal dysplasia with corneal dystrophy",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0112304",
                            "label": "spondylometaphyseal dysplasia Megarbane-Dagher-Melike type",
                            "link_status": true,
                            "children": []
                        }
                    ]
                },
                {
                    "id": "DOID:12347",
                    "label": "osteogenesis imperfecta",
                    "link_status": true,
                    "children": [
                        {
                            "id": "DOID:0060438",
                            "label": "Cole-Carpenter syndrome",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0110334",
                            "label": "osteogenesis imperfecta type 1",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0110336",
                            "label": "osteogenesis imperfecta type 8",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0110337",
                            "label": "osteogenesis imperfecta type 7",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0110338",
                            "label": "osteogenesis imperfecta type 17",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0110339",
                            "label": "osteogenesis imperfecta type 3",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0110340",
                            "label": "osteogenesis imperfecta type 4",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0110341",
                            "label": "osteogenesis imperfecta type 2",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0110342",
                            "label": "osteogenesis imperfecta type 13",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0110343",
                            "label": "osteogenesis imperfecta type 14",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0110344",
                            "label": "osteogenesis imperfecta type 5",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0110345",
                            "label": "osteogenesis imperfecta type 16",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0110346",
                            "label": "osteogenesis imperfecta type 10",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0110347",
                            "label": "osteogenesis imperfecta type 15",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0110348",
                            "label": "osteogenesis imperfecta type 12",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0110349",
                            "label": "osteogenesis imperfecta type 9",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0110350",
                            "label": "osteogenesis imperfecta type 6",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0110351",
                            "label": "osteogenesis imperfecta type 11",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0111847",
                            "label": "osteogenesis imperfecta type 19",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0111848",
                            "label": "osteogenesis imperfecta type 18",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0111849",
                            "label": "osteogenesis imperfecta type 20",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0112201",
                            "label": "osteogenesis imperfecta type 21",
                            "link_status": true,
                            "children": []
                        }
                    ]
                },
                {
                    "id": "DOID:12721",
                    "label": "multiple epiphyseal dysplasia",
                    "link_status": true,
                    "children": [
                        {
                            "id": "DOID:0070299",
                            "label": "multiple epiphyseal dysplasia 5",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0070300",
                            "label": "multiple epiphyseal dysplasia 4",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0070302",
                            "label": "multiple epiphyseal dysplasia 7",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0070303",
                            "label": "multiple epiphyseal dysplasia 1",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0070305",
                            "label": "multiple epiphyseal dysplasia due to collagen 9 anomaly",
                            "link_status": false,
                            "children": [
                                {
                                    "id": "DOID:0070298",
                                    "label": "multiple epiphyseal dysplasia 2",
                                    "link_status": true,
                                    "children": []
                                },
                                {
                                    "id": "DOID:0070301",
                                    "label": "multiple epiphyseal dysplasia 6",
                                    "link_status": true,
                                    "children": []
                                },
                                {
                                    "id": "DOID:0070304",
                                    "label": "multiple epiphyseal dysplasia 3",
                                    "link_status": true,
                                    "children": []
                                }
                            ]
                        }
                    ]
                },
                {
                    "id": "DOID:13481",
                    "label": "thanatophoric dysplasia",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:13994",
                    "label": "cleidocranial dysplasia",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:14687",
                    "label": "diastrophic dysplasia",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:4258",
                    "label": "Weissenbacher-Zweymuller syndrome",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:4480",
                    "label": "achondroplasia",
                    "link_status": true,
                    "children": []
                }
            ]
        }
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            "uniprot_ac": "O75369",
            "uniprot_id": "FLNB_HUMAN",
            "refseq_ac": "NP_001157789",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Filamin-B",
                    "type": "recommended"
                },
                {
                    "name": "ABP-278",
                    "type": "synonym"
                },
                {
                    "name": "ABP-280 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Actin-binding-like protein",
                    "type": "synonym"
                },
                {
                    "name": "Beta-filamin",
                    "type": "synonym"
                },
                {
                    "name": "FLN-B",
                    "type": "synonym"
                },
                {
                    "name": "Fh1",
                    "type": "synonym"
                },
                {
                    "name": "Filamin homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "Filamin-3",
                    "type": "synonym"
                },
                {
                    "name": "Larsen syndrome 1 (autosomal dominant)",
                    "type": "synonym"
                },
                {
                    "name": "Thyroid autoantigen",
                    "type": "synonym"
                },
                {
                    "name": "Truncated ABP",
                    "type": "synonym"
                },
                {
                    "name": "Truncated actin-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "actin binding protein 278",
                    "type": "synonym"
                },
                {
                    "name": "actin-binding-like protein",
                    "type": "synonym"
                },
                {
                    "name": "beta-filamin",
                    "type": "synonym"
                },
                {
                    "name": "filamin B, beta",
                    "type": "synonym"
                },
                {
                    "name": "filamin homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "filamin-3",
                    "type": "synonym"
                },
                {
                    "name": "filamin-B isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "thyroid autoantigen",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FLNB",
                    "type": "recommended"
                },
                {
                    "name": "ABP-278",
                    "type": "synonym"
                },
                {
                    "name": "ABP-280",
                    "type": "synonym"
                },
                {
                    "name": "FH1",
                    "type": "synonym"
                },
                {
                    "name": "FLN-B",
                    "type": "synonym"
                },
                {
                    "name": "FLN1L",
                    "type": "synonym"
                },
                {
                    "name": "FLN3",
                    "type": "synonym"
                },
                {
                    "name": "FLNB",
                    "type": "synonym"
                },
                {
                    "name": "LRS1",
                    "type": "synonym"
                },
                {
                    "name": "TABP",
                    "type": "synonym"
                },
                {
                    "name": "TAP",
                    "type": "synonym"
                }
            ],
            "record_id": "O75369-1",
            "evidence": [
                {
                    "id": "0080006",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080006"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080006"
}
