{
    "disease_id": "DOID:0110349",
    "recommended_name": {
        "id": "DOID:0110349",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110349",
        "name": "osteogenesis imperfecta type 9",
        "description": "An osteogenesis imperfecta that has_material_basis_in mutation in the PPIB gene on chromosome 15q22."
    },
    "synonyms": [
        {
            "id": "DOID:0110349",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110349",
            "name": "OI9",
            "description": ""
        },
        {
            "id": "DOID:0110349",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110349",
            "name": "osteogenesis imperfecta type IX",
            "description": ""
        },
        {
            "id": "MONDO:0009805",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009805",
            "name": "osteogenesis imperfecta type 9",
            "description": "Any osteogenesis imperfecta in which the cause of the disease is a mutation in the PPIB gene."
        },
        {
            "id": "MONDO:0009805",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009805",
            "name": "OI9",
            "description": ""
        },
        {
            "id": "MONDO:0009805",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009805",
            "name": "PPIB osteogenesis imperfecta",
            "description": ""
        },
        {
            "id": "MONDO:0009805",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009805",
            "name": "osteogenesis imperfecta caused by mutation in PPIB",
            "description": ""
        },
        {
            "id": "MONDO:0009805",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009805",
            "name": "osteogenesis imperfecta type 9",
            "description": ""
        },
        {
            "id": "MONDO:0009805",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009805",
            "name": "OI 9",
            "description": ""
        },
        {
            "id": "MONDO:0009805",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009805",
            "name": "OI type IX",
            "description": ""
        },
        {
            "id": "MONDO:0009805",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009805",
            "name": "osteogenesis imperfecta sillence type II/III without abnormality of type I collagen",
            "description": ""
        },
        {
            "id": "MONDO:0009805",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009805",
            "name": "osteogenesis imperfecta, type IX",
            "description": ""
        },
        {
            "id": "MIM:259440",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/259440",
            "name": "Osteogenesis imperfecta 9",
            "description": "Osteogenesis imperfecta 9"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110349"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110349",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110349",
            "categories": []
        },
        {
            "id": "MONDO:0009805",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009805",
            "categories": []
        },
        {
            "id": "MIM:259440",
            "database": "MIM",
            "url": "https://www.omim.org/entry/259440",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P24369-1",
            "uniprot_ac": "P24369",
            "uniprot_id": "PPIB_MOUSE",
            "refseq_ac": "NP_035279",
            "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 B",
                    "type": "recommended"
                },
                {
                    "name": "5.2.1.8",
                    "type": "synonym"
                },
                {
                    "name": "CYP-S1",
                    "type": "synonym"
                },
                {
                    "name": "Cyclophilin B",
                    "type": "synonym"
                },
                {
                    "name": "PPIase B",
                    "type": "synonym"
                },
                {
                    "name": "Rotamase B",
                    "type": "synonym"
                },
                {
                    "name": "S-cyclophilin",
                    "type": "synonym"
                },
                {
                    "name": "SCYLP",
                    "type": "synonym"
                },
                {
                    "name": "cyclophilin B",
                    "type": "synonym"
                },
                {
                    "name": "peptidyl-prolyl cis-trans isomerase B precursor",
                    "type": "synonym"
                },
                {
                    "name": "peptidyl-prolyl cis-trans isomerase B",
                    "type": "synonym"
                },
                {
                    "name": "rotamase B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ppib",
                    "type": "recommended"
                },
                {
                    "name": "Cphn-2",
                    "type": "synonym"
                },
                {
                    "name": "Cphn2",
                    "type": "synonym"
                },
                {
                    "name": "CyP-20b",
                    "type": "synonym"
                },
                {
                    "name": "Ppib",
                    "type": "synonym"
                }
            ],
            "record_id": "P24369-1",
            "evidence": [
                {
                    "id": "0110349",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110349"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P23284-1",
            "uniprot_ac": "P23284",
            "uniprot_id": "PPIB_HUMAN",
            "refseq_ac": "NP_000933",
            "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 B",
                    "type": "recommended"
                },
                {
                    "name": "5.2.1.8",
                    "type": "synonym"
                },
                {
                    "name": "CYP-S1",
                    "type": "synonym"
                },
                {
                    "name": "Cyclophilin B",
                    "type": "synonym"
                },
                {
                    "name": "PPIase B",
                    "type": "synonym"
                },
                {
                    "name": "Rotamase B",
                    "type": "synonym"
                },
                {
                    "name": "S-cyclophilin",
                    "type": "synonym"
                },
                {
                    "name": "SCYLP",
                    "type": "synonym"
                },
                {
                    "name": "cyclophilin-like protein",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory protein Li 39",
                    "type": "synonym"
                },
                {
                    "name": "peptidyl-prolyl cis-trans isomerase B precursor",
                    "type": "synonym"
                },
                {
                    "name": "peptidyl-prolyl cis-trans isomerase B",
                    "type": "synonym"
                },
                {
                    "name": "peptidylprolyl isomerase B (cyclophilin B)",
                    "type": "synonym"
                },
                {
                    "name": "rotamase B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PPIB",
                    "type": "recommended"
                },
                {
                    "name": "CYP-S1",
                    "type": "synonym"
                },
                {
                    "name": "CYPB",
                    "type": "synonym"
                },
                {
                    "name": "HEL-S-39",
                    "type": "synonym"
                },
                {
                    "name": "OI9",
                    "type": "synonym"
                },
                {
                    "name": "PPIB",
                    "type": "synonym"
                },
                {
                    "name": "SCYLP",
                    "type": "synonym"
                }
            ],
            "record_id": "P23284-1",
            "evidence": [
                {
                    "id": "259440",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/259440"
                },
                {
                    "id": "0110349",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110349"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P35176-1",
            "uniprot_ac": "P35176",
            "uniprot_id": "CYPD_YEAST",
            "refseq_ac": "NP_010590",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Peptidyl-prolyl cis-trans isomerase D",
                    "type": "recommended"
                },
                {
                    "name": "5.2.1.8",
                    "type": "synonym"
                },
                {
                    "name": "Cyclophilin D",
                    "type": "synonym"
                },
                {
                    "name": "Cyclosporin-sensitive proline rotamase 5",
                    "type": "synonym"
                },
                {
                    "name": "PPIase D",
                    "type": "synonym"
                },
                {
                    "name": "Rotamase D",
                    "type": "synonym"
                },
                {
                    "name": "peptidylprolyl isomerase family protein CPR5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CPR5",
                    "type": "recommended"
                },
                {
                    "name": "CPR5",
                    "type": "synonym"
                },
                {
                    "name": "CYP5",
                    "type": "synonym"
                },
                {
                    "name": "CYPD",
                    "type": "synonym"
                },
                {
                    "name": "D9740.14",
                    "type": "synonym"
                }
            ],
            "record_id": "P35176-1",
            "evidence": [
                {
                    "id": "0110349",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110349"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P23285-1",
            "uniprot_ac": "P23285",
            "uniprot_id": "CYPB_YEAST",
            "refseq_ac": "NP_011924",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Peptidyl-prolyl cis-trans isomerase B",
                    "type": "recommended"
                },
                {
                    "name": "5.2.1.8",
                    "type": "synonym"
                },
                {
                    "name": "Cyclophilin B",
                    "type": "synonym"
                },
                {
                    "name": "Cyclophilin-related protein",
                    "type": "synonym"
                },
                {
                    "name": "PPIase B",
                    "type": "synonym"
                },
                {
                    "name": "Rotamase B",
                    "type": "synonym"
                },
                {
                    "name": "peptidylprolyl isomerase CPR2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CPR2",
                    "type": "recommended"
                },
                {
                    "name": "CPR2",
                    "type": "synonym"
                },
                {
                    "name": "CRG",
                    "type": "synonym"
                },
                {
                    "name": "CYP2",
                    "type": "synonym"
                },
                {
                    "name": "SCC2",
                    "type": "synonym"
                }
            ],
            "record_id": "P23285-1",
            "evidence": [
                {
                    "id": "0110349",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110349"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P24368-1",
            "uniprot_ac": "P24368",
            "uniprot_id": "PPIB_RAT",
            "refseq_ac": "NP_071981",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Peptidyl-prolyl cis-trans isomerase B",
                    "type": "recommended"
                },
                {
                    "name": "5.2.1.8",
                    "type": "synonym"
                },
                {
                    "name": "CYP-S1",
                    "type": "synonym"
                },
                {
                    "name": "Cyclophilin B",
                    "type": "synonym"
                },
                {
                    "name": "PPIase B",
                    "type": "synonym"
                },
                {
                    "name": "Rotamase B",
                    "type": "synonym"
                },
                {
                    "name": "S-cyclophilin",
                    "type": "synonym"
                },
                {
                    "name": "S-cyclophylin",
                    "type": "synonym"
                },
                {
                    "name": "SCYLP",
                    "type": "synonym"
                },
                {
                    "name": "cyclophilin B",
                    "type": "synonym"
                },
                {
                    "name": "peptidyl-prolyl cis-trans isomerase B precursor",
                    "type": "synonym"
                },
                {
                    "name": "peptidyl-prolyl cis-trans isomerase B",
                    "type": "synonym"
                },
                {
                    "name": "rotamase B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ppib",
                    "type": "recommended"
                },
                {
                    "name": "CypB",
                    "type": "synonym"
                },
                {
                    "name": "Ppib",
                    "type": "synonym"
                },
                {
                    "name": "Scylp",
                    "type": "synonym"
                }
            ],
            "record_id": "P24368-1",
            "evidence": [
                {
                    "id": "0110349",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110349"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W227-1",
            "uniprot_ac": "Q9W227",
            "uniprot_id": "Q9W227_DROME",
            "refseq_ac": "NP_611695",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Peptidyl-prolyl cis-trans isomerase",
                    "type": "recommended"
                },
                {
                    "name": "5.2.1.8",
                    "type": "synonym"
                },
                {
                    "name": "CG2852-PA",
                    "type": "synonym"
                },
                {
                    "name": "PPIase",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG2852",
                    "type": "recommended"
                },
                {
                    "name": "CG2852",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG2852",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG2852",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W227-1",
            "evidence": [
                {
                    "id": "0110349",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110349"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110349"
}