{
    "disease_id": "DOID:0110351",
    "recommended_name": {
        "id": "DOID:0110351",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110351",
        "name": "osteogenesis imperfecta type 11",
        "description": "An osteogenesis imperfecta that has_material_basis_in mutation in the FKBP10 gene on chromosome 17q21."
    },
    "synonyms": [
        {
            "id": "DOID:0110351",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110351",
            "name": "OI11",
            "description": ""
        },
        {
            "id": "DOID:0110351",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110351",
            "name": "osteogenesis imperfecta type XI",
            "description": ""
        },
        {
            "id": "MONDO:0012592",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012592",
            "name": "osteogenesis imperfecta type 11",
            "description": "Any osteogenesis imperfecta in which the cause of the disease is a mutation in the FKBP10 gene."
        },
        {
            "id": "MONDO:0012592",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012592",
            "name": "FKBP10 osteogenesis imperfecta",
            "description": ""
        },
        {
            "id": "MONDO:0012592",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012592",
            "name": "OI11",
            "description": ""
        },
        {
            "id": "MONDO:0012592",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012592",
            "name": "osteogenesis imperfecta caused by mutation in FKBP10",
            "description": ""
        },
        {
            "id": "MONDO:0012592",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012592",
            "name": "OI type 11",
            "description": ""
        },
        {
            "id": "MONDO:0012592",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012592",
            "name": "OI type XI",
            "description": ""
        },
        {
            "id": "MONDO:0012592",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012592",
            "name": "osteogenesis imperfecta, type XI",
            "description": ""
        },
        {
            "id": "MIM:610968",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/610968",
            "name": "Osteogenesis imperfecta 11",
            "description": "Osteogenesis imperfecta 11"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110351"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110351",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110351",
            "categories": []
        },
        {
            "id": "MONDO:0012592",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012592",
            "categories": []
        },
        {
            "id": "MIM:610968",
            "database": "MIM",
            "url": "https://www.omim.org/entry/610968",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9PBG3-1",
            "uniprot_ac": "A0A8M9PBG3",
            "uniprot_id": "A0A8M9PBG3_DANRE",
            "refseq_ac": "XP_009292452",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "peptidylprolyl isomerase",
                    "type": "recommended"
                },
                {
                    "name": "5.2.1.8",
                    "type": "synonym"
                },
                {
                    "name": "peptidyl-prolyl cis-trans isomerase FKBP10 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "fkbp10a",
                    "type": "recommended"
                },
                {
                    "name": "fkbp10a",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9PBG3-1",
            "evidence": [
                {
                    "id": "0110351",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110351"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q61576-1",
            "uniprot_ac": "Q61576",
            "uniprot_id": "FKB10_MOUSE",
            "refseq_ac": "NP_034351",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "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 6 (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": "immunophilin FKBP65",
                    "type": "synonym"
                },
                {
                    "name": "peptidyl-prolyl cis-trans isomerase FKBP10 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "peptidyl-prolyl cis-trans isomerase FKBP10",
                    "type": "synonym"
                },
                {
                    "name": "rotamase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fkbp10",
                    "type": "recommended"
                },
                {
                    "name": "FKBP-10",
                    "type": "synonym"
                },
                {
                    "name": "FKBP-65",
                    "type": "synonym"
                },
                {
                    "name": "FKBP65",
                    "type": "synonym"
                },
                {
                    "name": "Fkbp-rs1",
                    "type": "synonym"
                },
                {
                    "name": "Fkbp-rs",
                    "type": "synonym"
                },
                {
                    "name": "Fkbp1-rs",
                    "type": "synonym"
                },
                {
                    "name": "Fkbp10",
                    "type": "synonym"
                },
                {
                    "name": "Fkbp65",
                    "type": "synonym"
                },
                {
                    "name": "Fkbp6",
                    "type": "synonym"
                },
                {
                    "name": "Fkbprp",
                    "type": "synonym"
                }
            ],
            "record_id": "Q61576-1",
            "evidence": [
                {
                    "id": "0110351",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110351"
                }
            ]
        },
        {
            "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": "610968",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/610968"
                },
                {
                    "id": "0110351",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110351"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5U2V1-1",
            "uniprot_ac": "Q5U2V1",
            "uniprot_id": "Q5U2V1_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "peptidylprolyl isomerase",
                    "type": "recommended"
                },
                {
                    "name": "5.2.1.8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fkbp10",
                    "type": "recommended"
                }
            ],
            "record_id": "Q5U2V1-1",
            "evidence": [
                {
                    "id": "0110351",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110351"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110351"
}