{
    "disease_id": "DOID:0110342",
    "recommended_name": {
        "id": "DOID:0110342",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110342",
        "name": "osteogenesis imperfecta type 13",
        "description": "An osteogenesis imperfecta that has_material_basis_in mutation in the BMP1 gene on chromosome 8p21."
    },
    "synonyms": [
        {
            "id": "DOID:0110342",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110342",
            "name": "OI13",
            "description": ""
        },
        {
            "id": "DOID:0110342",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110342",
            "name": "osteogenesis imperfecta type XIII",
            "description": ""
        },
        {
            "id": "MONDO:0013924",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013924",
            "name": "osteogenesis imperfecta type 13",
            "description": "Any osteogenesis imperfecta in which the cause of the disease is a mutation in the BMP1 gene."
        },
        {
            "id": "MONDO:0013924",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013924",
            "name": "BMP1 osteogenesis imperfecta",
            "description": ""
        },
        {
            "id": "MONDO:0013924",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013924",
            "name": "OI13",
            "description": ""
        },
        {
            "id": "MONDO:0013924",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013924",
            "name": "osteogenesis imperfecta caused by mutation in BMP1",
            "description": ""
        },
        {
            "id": "MONDO:0013924",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013924",
            "name": "osteogenesis imperfecta, type XIII",
            "description": ""
        },
        {
            "id": "MIM:614856",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614856",
            "name": "Osteogenesis imperfecta 13",
            "description": "Osteogenesis imperfecta 13"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110342"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110342",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110342",
            "categories": []
        },
        {
            "id": "MONDO:0013924",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013924",
            "categories": []
        },
        {
            "id": "MIM:614856",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614856",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M2B1Y0-1",
            "uniprot_ac": "A0A8M2B1Y0",
            "uniprot_id": "A0A8M2B1Y0_DANRE",
            "refseq_ac": "XP_005155463",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Metalloendopeptidase",
                    "type": "recommended"
                },
                {
                    "name": "3.4.24.-",
                    "type": "synonym"
                },
                {
                    "name": "bone morphogenetic protein 1b isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "bmp1b",
                    "type": "recommended"
                },
                {
                    "name": "bmp1b",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2B1Y0-1",
            "evidence": [
                {
                    "id": "0110342",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110342"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P98063-1",
            "uniprot_ac": "P98063",
            "uniprot_id": "BMP1_MOUSE",
            "refseq_ac": "NP_033885",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Bone morphogenetic protein 1",
                    "type": "recommended"
                },
                {
                    "name": "3.4.24.19",
                    "type": "synonym"
                },
                {
                    "name": "BMP-1",
                    "type": "synonym"
                },
                {
                    "name": "Mammalian tolloid protein",
                    "type": "synonym"
                },
                {
                    "name": "PCP",
                    "type": "synonym"
                },
                {
                    "name": "Procollagen C-proteinase",
                    "type": "synonym"
                },
                {
                    "name": "bone morphogenetic protein 1 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "mTld",
                    "type": "synonym"
                },
                {
                    "name": "mammalian tolloid protein",
                    "type": "synonym"
                },
                {
                    "name": "procollagen C-proteinase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bmp1",
                    "type": "recommended"
                },
                {
                    "name": "Bmp1",
                    "type": "synonym"
                },
                {
                    "name": "Pcp",
                    "type": "synonym"
                },
                {
                    "name": "Tld",
                    "type": "synonym"
                }
            ],
            "record_id": "P98063-1",
            "evidence": [
                {
                    "id": "0110342",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110342"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P13497-1",
            "uniprot_ac": "P13497",
            "uniprot_id": "BMP1_HUMAN",
            "refseq_ac": "NP_001190",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Bone morphogenetic protein 1",
                    "type": "recommended"
                },
                {
                    "name": "3.4.24.19",
                    "type": "synonym"
                },
                {
                    "name": "BMP-1",
                    "type": "synonym"
                },
                {
                    "name": "Mammalian tolloid protein",
                    "type": "synonym"
                },
                {
                    "name": "PCP",
                    "type": "synonym"
                },
                {
                    "name": "Procollagen C-proteinase",
                    "type": "synonym"
                },
                {
                    "name": "bone morphogenetic protein 1 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "mTld",
                    "type": "synonym"
                },
                {
                    "name": "mammalian tolloid protein",
                    "type": "synonym"
                },
                {
                    "name": "procollagen C-endopeptidase",
                    "type": "synonym"
                },
                {
                    "name": "procollagen C-proteinase 3",
                    "type": "synonym"
                },
                {
                    "name": "tolloid-like",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BMP1",
                    "type": "recommended"
                },
                {
                    "name": "BMP1",
                    "type": "synonym"
                },
                {
                    "name": "OI13",
                    "type": "synonym"
                },
                {
                    "name": "PCOLC",
                    "type": "synonym"
                },
                {
                    "name": "PCP",
                    "type": "synonym"
                },
                {
                    "name": "TLD",
                    "type": "synonym"
                }
            ],
            "record_id": "P13497-1",
            "evidence": [
                {
                    "id": "614856",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614856"
                },
                {
                    "id": "0110342",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110342"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1M798-1",
            "uniprot_ac": "F1M798",
            "uniprot_id": "F1M798_RAT",
            "refseq_ac": "NP_112613",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Metalloendopeptidase",
                    "type": "recommended"
                },
                {
                    "name": "3.4.24.-",
                    "type": "synonym"
                },
                {
                    "name": "bone morphogenetic protein 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "procollagen C-proteinase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bmp1",
                    "type": "recommended"
                },
                {
                    "name": "Bmp1",
                    "type": "synonym"
                }
            ],
            "record_id": "F1M798-1",
            "evidence": [
                {
                    "id": "0110342",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110342"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P25723-1",
            "uniprot_ac": "P25723",
            "uniprot_id": "TLD_DROME",
            "refseq_ac": "NP_524487",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dorsal-ventral patterning protein tolloid",
                    "type": "recommended"
                },
                {
                    "name": "3.4.24.-",
                    "type": "synonym"
                },
                {
                    "name": "CG6868-PA",
                    "type": "synonym"
                },
                {
                    "name": "tld-PA",
                    "type": "synonym"
                },
                {
                    "name": "tolloid",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tld",
                    "type": "recommended"
                },
                {
                    "name": "CG6868",
                    "type": "synonym"
                },
                {
                    "name": "CT21278",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6868",
                    "type": "synonym"
                },
                {
                    "name": "TLD",
                    "type": "synonym"
                },
                {
                    "name": "Tld",
                    "type": "synonym"
                },
                {
                    "name": "Tolloid",
                    "type": "synonym"
                },
                {
                    "name": "dTld",
                    "type": "synonym"
                },
                {
                    "name": "tld",
                    "type": "synonym"
                }
            ],
            "record_id": "P25723-1",
            "evidence": [
                {
                    "id": "0110342",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110342"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VC47-1",
            "uniprot_ac": "Q9VC47",
            "uniprot_id": "TOK_DROME",
            "refseq_ac": "NP_001287510",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein tolkin",
                    "type": "recommended"
                },
                {
                    "name": "3.4.24.-",
                    "type": "synonym"
                },
                {
                    "name": "CG6863-PC",
                    "type": "synonym"
                },
                {
                    "name": "Tolloid-related protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Tolloid-related protein",
                    "type": "synonym"
                },
                {
                    "name": "Tolloid-related",
                    "type": "synonym"
                },
                {
                    "name": "piranha",
                    "type": "synonym"
                },
                {
                    "name": "tld-related-1",
                    "type": "synonym"
                },
                {
                    "name": "tok-PC",
                    "type": "synonym"
                },
                {
                    "name": "tolkin, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "tolkin",
                    "type": "synonym"
                },
                {
                    "name": "tolloid-related 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tok",
                    "type": "recommended"
                },
                {
                    "name": "CG6863",
                    "type": "synonym"
                },
                {
                    "name": "CT21251",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6863",
                    "type": "synonym"
                },
                {
                    "name": "TLR",
                    "type": "synonym"
                },
                {
                    "name": "TOK",
                    "type": "synonym"
                },
                {
                    "name": "Tlr-1",
                    "type": "synonym"
                },
                {
                    "name": "Tlr",
                    "type": "synonym"
                },
                {
                    "name": "Tok",
                    "type": "synonym"
                },
                {
                    "name": "tldr-1",
                    "type": "synonym"
                },
                {
                    "name": "tldr1",
                    "type": "synonym"
                },
                {
                    "name": "tlr-1",
                    "type": "synonym"
                },
                {
                    "name": "tlr1",
                    "type": "synonym"
                },
                {
                    "name": "tlr",
                    "type": "synonym"
                },
                {
                    "name": "tok",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VC47-1",
            "evidence": [
                {
                    "id": "0110342",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110342"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110342"
}