{
    "disease_id": "DOID:0110350",
    "recommended_name": {
        "id": "DOID:0110350",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110350",
        "name": "osteogenesis imperfecta type 6",
        "description": "An osteogenesis imperfecta that has_material_basis_in mutation in the SERPINF1 gene on chromosome 17p13.3."
    },
    "synonyms": [
        {
            "id": "DOID:0110350",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110350",
            "name": "OI6",
            "description": ""
        },
        {
            "id": "DOID:0110350",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110350",
            "name": "osteogenesis imperfecta type VI",
            "description": ""
        },
        {
            "id": "MONDO:0013515",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013515",
            "name": "osteogenesis imperfecta type 6",
            "description": "Any osteogenesis imperfecta in which the cause of the disease is a mutation in the SERPINF1 gene."
        },
        {
            "id": "MONDO:0013515",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013515",
            "name": "OI6",
            "description": ""
        },
        {
            "id": "MONDO:0013515",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013515",
            "name": "SERPINF1 osteogenesis imperfecta",
            "description": ""
        },
        {
            "id": "MONDO:0013515",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013515",
            "name": "osteogenesis imperfecta caused by mutation in SERPINF1",
            "description": ""
        },
        {
            "id": "MONDO:0013515",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013515",
            "name": "OI type 6",
            "description": ""
        },
        {
            "id": "MONDO:0013515",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013515",
            "name": "OI type VI",
            "description": ""
        },
        {
            "id": "MONDO:0013515",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013515",
            "name": "SERPINFI- related osteogenesis imperfecta",
            "description": ""
        },
        {
            "id": "MONDO:0013515",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013515",
            "name": "osteogenesis imperfecta type",
            "description": ""
        },
        {
            "id": "MONDO:0013515",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013515",
            "name": "osteogenesis imperfecta, type VI",
            "description": ""
        },
        {
            "id": "MIM:613982",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613982",
            "name": "Osteogenesis imperfecta 6",
            "description": "Osteogenesis imperfecta 6"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110350"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110350",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110350",
            "categories": []
        },
        {
            "id": "MONDO:0013515",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013515",
            "categories": []
        },
        {
            "id": "MIM:613982",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613982",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P97298-1",
            "uniprot_ac": "P97298",
            "uniprot_id": "PEDF_MOUSE",
            "refseq_ac": "NP_035470",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pigment epithelium-derived factor",
                    "type": "recommended"
                },
                {
                    "name": "Caspin",
                    "type": "synonym"
                },
                {
                    "name": "PEDF",
                    "type": "synonym"
                },
                {
                    "name": "SDF-3",
                    "type": "synonym"
                },
                {
                    "name": "Serpin F1",
                    "type": "synonym"
                },
                {
                    "name": "Stromal cell-derived factor 3",
                    "type": "synonym"
                },
                {
                    "name": "alpha-2 antiplasmin",
                    "type": "synonym"
                },
                {
                    "name": "caspin",
                    "type": "synonym"
                },
                {
                    "name": "pigment epithelium-derived factor precursor",
                    "type": "synonym"
                },
                {
                    "name": "pigment epithelium-derived factor",
                    "type": "synonym"
                },
                {
                    "name": "serine (or cysteine) proteinase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1",
                    "type": "synonym"
                },
                {
                    "name": "serine (or cysteine) proteinase inhibitor, clade F), member 1",
                    "type": "synonym"
                },
                {
                    "name": "serine (or cysteine) proteinase inhibitor, clade F, member 1",
                    "type": "synonym"
                },
                {
                    "name": "serpin F1",
                    "type": "synonym"
                },
                {
                    "name": "stromal cell-derived factor 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Serpinf1",
                    "type": "recommended"
                },
                {
                    "name": "EPC-1",
                    "type": "synonym"
                },
                {
                    "name": "Pedfl",
                    "type": "synonym"
                },
                {
                    "name": "Pedf",
                    "type": "synonym"
                },
                {
                    "name": "Sdf3",
                    "type": "synonym"
                },
                {
                    "name": "Serpinf1",
                    "type": "synonym"
                }
            ],
            "record_id": "P97298-1",
            "evidence": [
                {
                    "id": "0110350",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110350"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P36955-1",
            "uniprot_ac": "P36955",
            "uniprot_id": "PEDF_HUMAN",
            "refseq_ac": "NP_001316832",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pigment epithelium-derived factor",
                    "type": "recommended"
                },
                {
                    "name": "Cell proliferation-inducing gene 35 protein",
                    "type": "synonym"
                },
                {
                    "name": "EPC-1",
                    "type": "synonym"
                },
                {
                    "name": "PEDF",
                    "type": "synonym"
                },
                {
                    "name": "Serpin F1",
                    "type": "synonym"
                },
                {
                    "name": "cell proliferation-inducing gene 35 protein",
                    "type": "synonym"
                },
                {
                    "name": "pigment epithelium-derived factor isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "pigment epithelium-derived factor",
                    "type": "synonym"
                },
                {
                    "name": "serine (or cysteine) proteinase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1",
                    "type": "synonym"
                },
                {
                    "name": "serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1",
                    "type": "synonym"
                },
                {
                    "name": "testis tissue sperm-binding protein Li 70n",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SERPINF1",
                    "type": "recommended"
                },
                {
                    "name": "EPC-1",
                    "type": "synonym"
                },
                {
                    "name": "OI12",
                    "type": "synonym"
                },
                {
                    "name": "OI6",
                    "type": "synonym"
                },
                {
                    "name": "PEDF",
                    "type": "synonym"
                },
                {
                    "name": "PIG35",
                    "type": "synonym"
                },
                {
                    "name": "SERPINF1",
                    "type": "synonym"
                }
            ],
            "record_id": "P36955-1",
            "evidence": [
                {
                    "id": "613982",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613982"
                },
                {
                    "id": "0110350",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110350"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A1Z6I3-1",
            "uniprot_ac": "A1Z6I3",
            "uniprot_id": "A1Z6I3_DROME",
            "refseq_ac": "NP_610188",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serpin domain-containing protein",
                    "type": "recommended"
                },
                {
                    "name": "CG43366-PB",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG43366",
                    "type": "recommended"
                },
                {
                    "name": "CG12551",
                    "type": "synonym"
                },
                {
                    "name": "CG14470",
                    "type": "synonym"
                },
                {
                    "name": "CG43366",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG43366",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG43366",
                    "type": "synonym"
                }
            ],
            "record_id": "A1Z6I3-1",
            "evidence": [
                {
                    "id": "0110350",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110350"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VH46-1",
            "uniprot_ac": "Q9VH46",
            "uniprot_id": "Q9VH46_DROME",
            "refseq_ac": "NP_649965",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG12807-PA",
                    "type": "synonym"
                },
                {
                    "name": "Serpin 85F",
                    "type": "synonym"
                },
                {
                    "name": "Spn85F-PA",
                    "type": "synonym"
                },
                {
                    "name": "serpin 85F",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Spn85F",
                    "type": "recommended"
                },
                {
                    "name": "CG12807",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG12807",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG12807",
                    "type": "synonym"
                },
                {
                    "name": "Spn85F",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VH46-1",
            "evidence": [
                {
                    "id": "0110350",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110350"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110350"
}