{
    "disease_id": "DOID:0060231",
    "recommended_name": {
        "id": "DOID:0060231",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060231",
        "name": "Bruck syndrome",
        "description": "A syndrome characterized by a combination of multiple joint contractures and osteogenesis imperfecta."
    },
    "synonyms": [
        {
            "id": "DOID:0060231",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060231",
            "name": "osteogenesis imperfecta with congenital joint contractures",
            "description": ""
        },
        {
            "id": "MONDO:0009806",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009806",
            "name": "Bruck syndrome 1",
            "description": "Any Bruck syndrome in which the cause of the disease is a mutation in the FKBP10 gene."
        },
        {
            "id": "MONDO:0009806",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009806",
            "name": "Bruck syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0009806",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009806",
            "name": "Bruck syndrome caused by mutation in FKBP10",
            "description": ""
        },
        {
            "id": "MONDO:0009806",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009806",
            "name": "Bruck syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0009806",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009806",
            "name": "FKBP10 Bruck syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009806",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009806",
            "name": "arthrogryposis-like disorder",
            "description": ""
        },
        {
            "id": "MONDO:0009806",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009806",
            "name": "BRKS1",
            "description": ""
        },
        {
            "id": "MONDO:0012217",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012217",
            "name": "Bruck syndrome 2",
            "description": "Any Bruck syndrome in which the cause of the disease is a mutation in the PLOD2 gene."
        },
        {
            "id": "MONDO:0012217",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012217",
            "name": "Bruck syndrome 2",
            "description": ""
        },
        {
            "id": "MONDO:0012217",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012217",
            "name": "Bruck syndrome caused by mutation in PLOD2",
            "description": ""
        },
        {
            "id": "MONDO:0012217",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012217",
            "name": "Bruck syndrome type 2",
            "description": ""
        },
        {
            "id": "MONDO:0012217",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012217",
            "name": "PLOD2 Bruck syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012217",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012217",
            "name": "BRKS2",
            "description": ""
        },
        {
            "id": "MIM:259450",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/259450",
            "name": "Bruck syndrome 1",
            "description": "Bruck syndrome 1"
        },
        {
            "id": "MIM:609220",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/609220",
            "name": "Bruck syndrome 2",
            "description": "Bruck syndrome 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060231"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060231",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060231",
            "categories": []
        },
        {
            "id": "MONDO:0009806",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009806",
            "categories": []
        },
        {
            "id": "MONDO:0012217",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012217",
            "categories": []
        },
        {
            "id": "MIM:259450",
            "database": "MIM",
            "url": "https://www.omim.org/entry/259450",
            "categories": []
        },
        {
            "id": "MIM:609220",
            "database": "MIM",
            "url": "https://www.omim.org/entry/609220",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "O00469-1",
            "uniprot_ac": "O00469",
            "uniprot_id": "PLOD2_HUMAN",
            "refseq_ac": "NP_000926",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Procollagen-lysine,2-oxoglutarate 5-dioxygenase 2",
                    "type": "recommended"
                },
                {
                    "name": "1.14.11.4",
                    "type": "synonym"
                },
                {
                    "name": "LH2",
                    "type": "synonym"
                },
                {
                    "name": "Lysyl hydroxylase 2",
                    "type": "synonym"
                },
                {
                    "name": "lysine hydroxylase 2",
                    "type": "synonym"
                },
                {
                    "name": "lysyl hydroxlase 2",
                    "type": "synonym"
                },
                {
                    "name": "lysyl hydroxylase 2",
                    "type": "synonym"
                },
                {
                    "name": "procollagen lysyl hydroxylase 2",
                    "type": "synonym"
                },
                {
                    "name": "procollagen-lysine 5-dioxygenase",
                    "type": "synonym"
                },
                {
                    "name": "procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "telopeptide lysyl hydroxylase",
                    "type": "synonym"
                },
                {
                    "name": "telopeptidyl lysyl hydroxylase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PLOD2",
                    "type": "recommended"
                },
                {
                    "name": "BRKS2",
                    "type": "synonym"
                },
                {
                    "name": "LH2",
                    "type": "synonym"
                },
                {
                    "name": "PLOD2",
                    "type": "synonym"
                },
                {
                    "name": "TLH",
                    "type": "synonym"
                }
            ],
            "record_id": "O00469-1",
            "evidence": [
                {
                    "id": "5352",
                    "database": "GlyCosmos",
                    "url": "https://glycosmos.org/glycogenes/show/5352#disease"
                },
                {
                    "id": "0012217",
                    "database": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0012217"
                },
                {
                    "id": "609220",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/609220"
                },
                {
                    "id": "0060231",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060231"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9R0B9-1",
            "uniprot_ac": "Q9R0B9",
            "uniprot_id": "PLOD2_MOUSE",
            "refseq_ac": "NP_001136388",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Procollagen-lysine,2-oxoglutarate 5-dioxygenase 2",
                    "type": "recommended"
                },
                {
                    "name": "1.14.11.4",
                    "type": "synonym"
                },
                {
                    "name": "LH2",
                    "type": "synonym"
                },
                {
                    "name": "Lysyl hydroxylase 2",
                    "type": "synonym"
                },
                {
                    "name": "lysyl hydroxylase 2",
                    "type": "synonym"
                },
                {
                    "name": "procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 isoform 1 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Plod2",
                    "type": "recommended"
                },
                {
                    "name": "D530025C14Rik",
                    "type": "synonym"
                },
                {
                    "name": "LH2",
                    "type": "synonym"
                },
                {
                    "name": "Plod-2",
                    "type": "synonym"
                },
                {
                    "name": "Plod2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9R0B9-1",
            "evidence": [
                {
                    "id": "0060231",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060231"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96AY3-1",
            "uniprot_ac": "Q96AY3",
            "uniprot_id": "FKB10_HUMAN",
            "refseq_ac": "NP_068758",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Peptidyl-prolyl cis-trans isomerase FKBP10",
                    "type": "recommended"
                },
                {
                    "name": "5.2.1.8",
                    "type": "synonym"
                },
                {
                    "name": "65 kDa FK506-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "65 kDa FKBP",
                    "type": "synonym"
                },
                {
                    "name": "FK506 binding protein 10, 65 kDa",
                    "type": "synonym"
                },
                {
                    "name": "FK506-binding protein 10",
                    "type": "synonym"
                },
                {
                    "name": "FKBP-10",
                    "type": "synonym"
                },
                {
                    "name": "FKBP-65",
                    "type": "synonym"
                },
                {
                    "name": "Immunophilin FKBP65",
                    "type": "synonym"
                },
                {
                    "name": "PPIase FKBP10",
                    "type": "synonym"
                },
                {
                    "name": "Rotamase",
                    "type": "synonym"
                },
                {
                    "name": "Telopeptide lysyl hydroxylase, bone-specific",
                    "type": "synonym"
                },
                {
                    "name": "immunophilin FKBP65",
                    "type": "synonym"
                },
                {
                    "name": "osteognesis imperfecta with congenital joint contractures",
                    "type": "synonym"
                },
                {
                    "name": "peptidyl-prolyl cis-trans isomerase FKBP10 precursor",
                    "type": "synonym"
                },
                {
                    "name": "peptidyl-prolyl cis-trans isomerase FKBP10",
                    "type": "synonym"
                },
                {
                    "name": "rotamase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FKBP10",
                    "type": "recommended"
                },
                {
                    "name": "BRKS1",
                    "type": "synonym"
                },
                {
                    "name": "BRKS",
                    "type": "synonym"
                },
                {
                    "name": "FKBP10",
                    "type": "synonym"
                },
                {
                    "name": "FKBP65",
                    "type": "synonym"
                },
                {
                    "name": "OI11",
                    "type": "synonym"
                },
                {
                    "name": "OI6",
                    "type": "synonym"
                },
                {
                    "name": "PPIASE",
                    "type": "synonym"
                },
                {
                    "name": "PSEC0056",
                    "type": "synonym"
                },
                {
                    "name": "TLH1",
                    "type": "synonym"
                },
                {
                    "name": "hFKBP65",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96AY3-1",
            "evidence": [
                {
                    "id": "259450",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/259450"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q811A3-1",
            "uniprot_ac": "Q811A3",
            "uniprot_id": "PLOD2_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Procollagen-lysine,2-oxoglutarate 5-dioxygenase 2",
                    "type": "recommended"
                },
                {
                    "name": "1.14.11.4",
                    "type": "synonym"
                },
                {
                    "name": "LH2",
                    "type": "synonym"
                },
                {
                    "name": "Lysyl hydroxylase 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Plod2",
                    "type": "recommended"
                }
            ],
            "record_id": "Q811A3-1",
            "evidence": [
                {
                    "id": "0060231",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060231"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VTH0-1",
            "uniprot_ac": "Q9VTH0",
            "uniprot_id": "PLOD_DROME",
            "refseq_ac": "NP_648451",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Procollagen-lysine,2-oxoglutarate 5-dioxygenase",
                    "type": "recommended"
                },
                {
                    "name": "1.14.11.4",
                    "type": "synonym"
                },
                {
                    "name": "CG6199-PA",
                    "type": "synonym"
                },
                {
                    "name": "Plod-PA",
                    "type": "synonym"
                },
                {
                    "name": "Procollagen lysyl hydroxylase",
                    "type": "synonym"
                },
                {
                    "name": "drosophila plod",
                    "type": "synonym"
                },
                {
                    "name": "lysyl hydroxylase",
                    "type": "synonym"
                },
                {
                    "name": "procollagen lysyl hydroxylase, isoform A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Plod",
                    "type": "recommended"
                },
                {
                    "name": "CG6199",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6199",
                    "type": "synonym"
                },
                {
                    "name": "LH3",
                    "type": "synonym"
                },
                {
                    "name": "Plod",
                    "type": "synonym"
                },
                {
                    "name": "RE-H",
                    "type": "synonym"
                },
                {
                    "name": "anon-EST:ParkEST325",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0118547.416",
                    "type": "synonym"
                },
                {
                    "name": "dPlod",
                    "type": "synonym"
                },
                {
                    "name": "dplod",
                    "type": "synonym"
                },
                {
                    "name": "plod",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VTH0-1",
            "evidence": [
                {
                    "id": "0060231",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060231"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P09104-1",
            "uniprot_ac": "P09104",
            "uniprot_id": "ENOG_HUMAN",
            "refseq_ac": "NP_001966",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Gamma-enolase",
                    "type": "recommended"
                },
                {
                    "name": "2-phospho-D-glycerate hydro-lyase",
                    "type": "synonym"
                },
                {
                    "name": "2-phospho-D-glycerate hydrolyase",
                    "type": "synonym"
                },
                {
                    "name": "4.2.1.11",
                    "type": "synonym"
                },
                {
                    "name": "Enolase 2",
                    "type": "synonym"
                },
                {
                    "name": "NSE",
                    "type": "synonym"
                },
                {
                    "name": "Neural enolase",
                    "type": "synonym"
                },
                {
                    "name": "Neuron-specific enolase",
                    "type": "synonym"
                },
                {
                    "name": "enolase 2 (gamma, neuronal)",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory protein Li 279",
                    "type": "synonym"
                },
                {
                    "name": "gamma-enolase",
                    "type": "synonym"
                },
                {
                    "name": "neural enolase",
                    "type": "synonym"
                },
                {
                    "name": "neuron specific gamma enolase",
                    "type": "synonym"
                },
                {
                    "name": "neuron-specific enolase",
                    "type": "synonym"
                },
                {
                    "name": "neuronal enriched enolase",
                    "type": "synonym"
                },
                {
                    "name": "neurone-specific enolase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ENO2",
                    "type": "recommended"
                },
                {
                    "name": "ENO2",
                    "type": "synonym"
                },
                {
                    "name": "HEL-S-279",
                    "type": "synonym"
                },
                {
                    "name": "NSE",
                    "type": "synonym"
                }
            ],
            "record_id": "P09104-1",
            "evidence": [
                {
                    "id": "0060231",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060231"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060231"
}