{
    "disease_id": "DOID:0110345",
    "recommended_name": {
        "id": "DOID:0110345",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110345",
        "name": "osteogenesis imperfecta type 16",
        "description": "An osteogenesis imperfecta that has_material_basis_in contiguous gene deletion on chromosome 11p11."
    },
    "synonyms": [
        {
            "id": "DOID:0110345",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110345",
            "name": "OI16",
            "description": ""
        },
        {
            "id": "DOID:0110345",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110345",
            "name": "chromosome 11p11.2 deletion syndrome 91.3-KB",
            "description": ""
        },
        {
            "id": "DOID:0110345",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110345",
            "name": "osteogenesis imperfecta type XVI",
            "description": ""
        },
        {
            "id": "MONDO:0014544",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014544",
            "name": "osteogenesis imperfecta type 16",
            "description": "An osteogenesis imperfecta that has material basis in contiguous gene deletion on chromosome 11p11."
        },
        {
            "id": "MONDO:0014544",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014544",
            "name": "OI16",
            "description": ""
        },
        {
            "id": "MONDO:0014544",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014544",
            "name": "osteogenesis imperfecta, type XVI",
            "description": ""
        },
        {
            "id": "MIM:616229",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616229",
            "name": "Osteogenesis imperfecta 16",
            "description": "Osteogenesis imperfecta 16"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110345"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110345",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110345",
            "categories": []
        },
        {
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            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014544",
            "categories": []
        },
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            "url": "https://www.omim.org/entry/616229",
            "categories": []
        }
    ],
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            "uniprot_ac": "E7FCG3",
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            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                {
                    "name": "Cyclic AMP-responsive element-binding protein 3-like protein 1 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "cyclic AMP-responsive element-binding protein 3-like protein 1",
                    "type": "synonym"
                }
            ],
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                    "name": "creb3l1",
                    "type": "recommended"
                },
                {
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                    "type": "synonym"
                },
                {
                    "name": "fa98d12",
                    "type": "synonym"
                },
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                    "name": "id:ibd2573",
                    "type": "synonym"
                },
                {
                    "name": "id:ibd5131",
                    "type": "synonym"
                },
                {
                    "name": "wu:fa98d12",
                    "type": "synonym"
                }
            ],
            "record_id": "E7FCG3-1",
            "evidence": [
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                    "id": "0110345",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110345"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Z125-1",
            "uniprot_ac": "Q9Z125",
            "uniprot_id": "CR3L1_MOUSE",
            "refseq_ac": "NP_036087",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                {
                    "name": "Cyclic AMP-responsive element-binding protein 3-like protein 1",
                    "type": "recommended"
                },
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                    "name": "BBF-2 homolog",
                    "type": "synonym"
                },
                {
                    "name": "OA-N",
                    "type": "synonym"
                },
                {
                    "name": "OASIS",
                    "type": "synonym"
                },
                {
                    "name": "Oasis N-terminal fragment",
                    "type": "synonym"
                },
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                    "name": "Old astrocyte specifically-induced substance",
                    "type": "synonym"
                },
                {
                    "name": "cAMP-responsive element-binding protein 3-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "cyclic AMP-responsive element-binding protein 3-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "old astrocyte specifically induced substance",
                    "type": "synonym"
                }
            ],
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            ]
        },
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            "uniprot_ac": "Q96BA8",
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            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                },
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                    "type": "synonym"
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                {
                    "name": "Old astrocyte specifically-induced substance",
                    "type": "synonym"
                },
                {
                    "name": "Osteogenesis imperfecta, type XVI",
                    "type": "synonym"
                },
                {
                    "name": "cAMP-responsive element-binding protein 3-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "cyclic AMP-responsive element-binding protein 3-like protein 1 isoform 1",
                    "type": "synonym"
                },
                {
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                    "type": "synonym"
                },
                {
                    "name": "old astrocyte specifically-induced substance",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CREB3L1",
                    "type": "recommended"
                },
                {
                    "name": "C16DELp11.2",
                    "type": "synonym"
                },
                {
                    "name": "CREB3L1",
                    "type": "synonym"
                },
                {
                    "name": "DEL16p11.2",
                    "type": "synonym"
                },
                {
                    "name": "OASIS",
                    "type": "synonym"
                },
                {
                    "name": "OI16",
                    "type": "synonym"
                },
                {
                    "name": "PSEC0238",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96BA8-1",
            "evidence": [
                {
                    "id": "616229",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616229"
                },
                {
                    "id": "0110345",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110345"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q66HA2-1",
            "uniprot_ac": "Q66HA2",
            "uniprot_id": "CR3L1_RAT",
            "refseq_ac": "NP_001005562",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cyclic AMP-responsive element-binding protein 3-like protein 1",
                    "type": "recommended"
                },
                {
                    "name": "OASIS",
                    "type": "synonym"
                },
                {
                    "name": "Old astrocyte specifically-induced substance",
                    "type": "synonym"
                },
                {
                    "name": "cAMP-responsive element-binding protein 3-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "cyclic AMP-responsive element-binding protein 3-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "old astrocyte specifically-induced substance",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Creb3l1",
                    "type": "recommended"
                },
                {
                    "name": "Creb3l1",
                    "type": "synonym"
                },
                {
                    "name": "Oasis",
                    "type": "synonym"
                }
            ],
            "record_id": "Q66HA2-1",
            "evidence": [
                {
                    "id": "0110345",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110345"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P29747-1",
            "uniprot_ac": "P29747",
            "uniprot_id": "CREBA_DROME",
            "refseq_ac": "NP_524087",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cyclic AMP response element-binding protein A",
                    "type": "recommended"
                },
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                    "name": "BBF-2",
                    "type": "synonym"
                },
                {
                    "name": "Box B-binding factor 2",
                    "type": "synonym"
                },
                {
                    "name": "CG7450-PA",
                    "type": "synonym"
                },
                {
                    "name": "CREB-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "CrebA-PA",
                    "type": "synonym"
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                {
                    "name": "Cyclic-AMP response element binding protein A, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "cAMP response element binding protein A",
                    "type": "synonym"
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                {
                    "name": "cAMP response element binding protein",
                    "type": "synonym"
                },
                {
                    "name": "cAMP response element-binding protein A",
                    "type": "synonym"
                },
                {
                    "name": "cyclic AMP response element binding protein",
                    "type": "synonym"
                },
                {
                    "name": "dCREB-A",
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                }
            ],
            "gene_names": [
                {
                    "name": "CrebA",
                    "type": "recommended"
                },
                {
                    "name": "BBF-2",
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                },
                {
                    "name": "BBF2_DROME",
                    "type": "synonym"
                },
                {
                    "name": "BOX B Binding Factor-2",
                    "type": "synonym"
                },
                {
                    "name": "Bbbf2",
                    "type": "synonym"
                },
                {
                    "name": "BcDNA:SD05937",
                    "type": "synonym"
                },
                {
                    "name": "CG7450",
                    "type": "synonym"
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                    "name": "CRE-BP",
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                {
                    "name": "CREB-A",
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                {
                    "name": "CREB-a",
                    "type": "synonym"
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                    "name": "CREBA",
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                },
                {
                    "name": "CREB",
                    "type": "synonym"
                },
                {
                    "name": "Creb A",
                    "type": "synonym"
                },
                {
                    "name": "Creb-A",
                    "type": "synonym"
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                {
                    "name": "CrebA",
                    "type": "synonym"
                },
                {
                    "name": "Creb",
                    "type": "synonym"
                },
                {
                    "name": "DM4",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7450",
                    "type": "synonym"
                },
                {
                    "name": "crebA",
                    "type": "synonym"
                },
                {
                    "name": "creba",
                    "type": "synonym"
                },
                {
                    "name": "creb",
                    "type": "synonym"
                },
                {
                    "name": "dCREB-A",
                    "type": "synonym"
                },
                {
                    "name": "dCREBA",
                    "type": "synonym"
                },
                {
                    "name": "dCREB",
                    "type": "synonym"
                },
                {
                    "name": "dCreb-A",
                    "type": "synonym"
                },
                {
                    "name": "dCrebA",
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                },
                {
                    "name": "l(3)03576",
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                }
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                {
                    "id": "0110345",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110345"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110345"
}