{
    "disease_id": "DOID:0110346",
    "recommended_name": {
        "id": "DOID:0110346",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110346",
        "name": "osteogenesis imperfecta type 10",
        "description": "An osteogenesis imperfecta that has_material_basis_in mutation in the SERPINH gene on chromosome 11q13."
    },
    "synonyms": [
        {
            "id": "DOID:0110346",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110346",
            "name": "OI10",
            "description": ""
        },
        {
            "id": "DOID:0110346",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110346",
            "name": "osteogenesis imperfecta type X",
            "description": ""
        },
        {
            "id": "MONDO:0013459",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013459",
            "name": "osteogenesis imperfecta type 10",
            "description": "Any osteogenesis imperfecta in which the cause of the disease is a mutation in the SERPINH1 gene."
        },
        {
            "id": "MONDO:0013459",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013459",
            "name": "OI10",
            "description": ""
        },
        {
            "id": "MONDO:0013459",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013459",
            "name": "SERPINH1 osteogenesis imperfecta",
            "description": ""
        },
        {
            "id": "MONDO:0013459",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013459",
            "name": "osteogenesis imperfecta caused by mutation in SERPINH1",
            "description": ""
        },
        {
            "id": "MONDO:0013459",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013459",
            "name": "OI type 10",
            "description": ""
        },
        {
            "id": "MONDO:0013459",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013459",
            "name": "OI type X",
            "description": ""
        },
        {
            "id": "MONDO:0013459",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013459",
            "name": "osteogenesis imperfecta, type X",
            "description": ""
        },
        {
            "id": "MIM:613848",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613848",
            "name": "Osteogenesis imperfecta 10",
            "description": "Osteogenesis imperfecta 10"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110346"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110346",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110346",
            "categories": []
        },
        {
            "id": "MONDO:0013459",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013459",
            "categories": []
        },
        {
            "id": "MIM:613848",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613848",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1QQ04-1",
            "uniprot_ac": "F1QQ04",
            "uniprot_id": "F1QQ04_DANRE",
            "refseq_ac": "NP_001296752",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serpin H1",
                    "type": "recommended"
                },
                {
                    "name": "Collagen-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "heat shock protein 47",
                    "type": "synonym"
                },
                {
                    "name": "serpin H1b precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "serpinh1b",
                    "type": "recommended"
                },
                {
                    "name": "cb216",
                    "type": "synonym"
                },
                {
                    "name": "fc56b02",
                    "type": "synonym"
                },
                {
                    "name": "hsp47",
                    "type": "synonym"
                },
                {
                    "name": "hsp",
                    "type": "synonym"
                },
                {
                    "name": "id:ibd5060",
                    "type": "synonym"
                },
                {
                    "name": "serpinh1b",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc56b02",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QQ04-1",
            "evidence": [
                {
                    "id": "0110346",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110346"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P19324-1",
            "uniprot_ac": "P19324",
            "uniprot_id": "SERPH_MOUSE",
            "refseq_ac": "NP_001104513",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serpin H1",
                    "type": "recommended"
                },
                {
                    "name": "47 kDa heat shock protein",
                    "type": "synonym"
                },
                {
                    "name": "Collagen-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "Colligin",
                    "type": "synonym"
                },
                {
                    "name": "Serine protease inhibitor J6",
                    "type": "synonym"
                },
                {
                    "name": "beta enolase repressor factor 1",
                    "type": "synonym"
                },
                {
                    "name": "collagen binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "colligin",
                    "type": "synonym"
                },
                {
                    "name": "serine (or cysteine) proteinase inhibitor, clade H (heat shock protein 47), member 1",
                    "type": "synonym"
                },
                {
                    "name": "serine (or cysteine) proteinase inhibitor, clade H (heat shock protein 47), member 2",
                    "type": "synonym"
                },
                {
                    "name": "serine protease inhibitor J6",
                    "type": "synonym"
                },
                {
                    "name": "serpin H1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "serpin H1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Serpinh1",
                    "type": "recommended"
                },
                {
                    "name": "BERF-1",
                    "type": "synonym"
                },
                {
                    "name": "Cbp1",
                    "type": "synonym"
                },
                {
                    "name": "Cbp2",
                    "type": "synonym"
                },
                {
                    "name": "Hsp47",
                    "type": "synonym"
                },
                {
                    "name": "J6",
                    "type": "synonym"
                },
                {
                    "name": "Serpinh1",
                    "type": "synonym"
                },
                {
                    "name": "Serpinh2",
                    "type": "synonym"
                },
                {
                    "name": "gp46",
                    "type": "synonym"
                }
            ],
            "record_id": "P19324-1",
            "evidence": [
                {
                    "id": "0110346",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110346"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P50454-1",
            "uniprot_ac": "P50454",
            "uniprot_id": "SERPH_HUMAN",
            "refseq_ac": "NP_001193943",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serpin H1",
                    "type": "recommended"
                },
                {
                    "name": "47 kDa heat shock protein",
                    "type": "synonym"
                },
                {
                    "name": "Arsenic-transactivated protein 3",
                    "type": "synonym"
                },
                {
                    "name": "AsTP3",
                    "type": "synonym"
                },
                {
                    "name": "Cell proliferation-inducing gene 14 protein",
                    "type": "synonym"
                },
                {
                    "name": "Collagen-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "Colligin",
                    "type": "synonym"
                },
                {
                    "name": "Rheumatoid arthritis-related antigen RA-A47",
                    "type": "synonym"
                },
                {
                    "name": "arsenic-transactivated protein 3",
                    "type": "synonym"
                },
                {
                    "name": "cell proliferation-inducing gene 14 protein",
                    "type": "synonym"
                },
                {
                    "name": "colligin-1",
                    "type": "synonym"
                },
                {
                    "name": "colligin-2",
                    "type": "synonym"
                },
                {
                    "name": "rheumatoid arthritis antigen A-47",
                    "type": "synonym"
                },
                {
                    "name": "rheumatoid arthritis-related antigen RA-A47",
                    "type": "synonym"
                },
                {
                    "name": "serine (or cysteine) proteinase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)",
                    "type": "synonym"
                },
                {
                    "name": "serine (or cysteine) proteinase inhibitor, clade H (heat shock protein 47), member 2, (collagen-binding protein 2)",
                    "type": "synonym"
                },
                {
                    "name": "serpin H1 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "serpin H1",
                    "type": "synonym"
                },
                {
                    "name": "serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SERPINH1",
                    "type": "recommended"
                },
                {
                    "name": "AsTP3",
                    "type": "synonym"
                },
                {
                    "name": "CBP1",
                    "type": "synonym"
                },
                {
                    "name": "CBP2",
                    "type": "synonym"
                },
                {
                    "name": "HSP47",
                    "type": "synonym"
                },
                {
                    "name": "OI10",
                    "type": "synonym"
                },
                {
                    "name": "PIG14",
                    "type": "synonym"
                },
                {
                    "name": "PPROM",
                    "type": "synonym"
                },
                {
                    "name": "RA-A47",
                    "type": "synonym"
                },
                {
                    "name": "SERPINH1",
                    "type": "synonym"
                },
                {
                    "name": "SERPINH2",
                    "type": "synonym"
                },
                {
                    "name": "gp46",
                    "type": "synonym"
                }
            ],
            "record_id": "P50454-1",
            "evidence": [
                {
                    "id": "613848",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613848"
                },
                {
                    "id": "0110346",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110346"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P29457-1",
            "uniprot_ac": "P29457",
            "uniprot_id": "SERPH_RAT",
            "refseq_ac": "NP_058869",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serpin H1",
                    "type": "recommended"
                },
                {
                    "name": "47 kDa heat shock protein",
                    "type": "synonym"
                },
                {
                    "name": "Collagen-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "Colligin",
                    "type": "synonym"
                },
                {
                    "name": "GP46",
                    "type": "synonym"
                },
                {
                    "name": "collagen binding protein 2",
                    "type": "synonym"
                },
                {
                    "name": "collagen-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "colligin",
                    "type": "synonym"
                },
                {
                    "name": "serine (or cysteine) peptidase inhibitor, clade H, member 1",
                    "type": "synonym"
                },
                {
                    "name": "serine (or cysteine) proteinase inhibitor, clade H (heat shock protein 47), member 1",
                    "type": "synonym"
                },
                {
                    "name": "serine (or cysteine) proteinase inhibitor, clade H (heat shock protein 47), member 2",
                    "type": "synonym"
                },
                {
                    "name": "serine (or cysteine) proteinase inhibitor, clade H, member 1",
                    "type": "synonym"
                },
                {
                    "name": "serine proteinase inhibitor, clade H (heat shock protein 47), member 1",
                    "type": "synonym"
                },
                {
                    "name": "serpin H1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "serpin H1",
                    "type": "synonym"
                },
                {
                    "name": "serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)",
                    "type": "synonym"
                },
                {
                    "name": "serpin peptidase inhibitor, clade H, member 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Serpinh1",
                    "type": "recommended"
                },
                {
                    "name": "Cbp1",
                    "type": "synonym"
                },
                {
                    "name": "Cbp2",
                    "type": "synonym"
                },
                {
                    "name": "HSP47",
                    "type": "synonym"
                },
                {
                    "name": "Hsp47",
                    "type": "synonym"
                },
                {
                    "name": "Serpinh1",
                    "type": "synonym"
                },
                {
                    "name": "Serpinh2",
                    "type": "synonym"
                }
            ],
            "record_id": "P29457-1",
            "evidence": [
                {
                    "id": "0110346",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110346"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VWB4-1",
            "uniprot_ac": "Q9VWB4",
            "uniprot_id": "Q9VWB4_DROME",
            "refseq_ac": "NP_649206",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG6663-PA",
                    "type": "synonym"
                },
                {
                    "name": "Serpin 77Bb",
                    "type": "synonym"
                },
                {
                    "name": "Spn77Bb-PA",
                    "type": "synonym"
                },
                {
                    "name": "serpin 77Bb",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Spn77Bb",
                    "type": "recommended"
                },
                {
                    "name": "CG6266",
                    "type": "synonym"
                },
                {
                    "name": "CG6663",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6663",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG6663",
                    "type": "synonym"
                },
                {
                    "name": "FBgn0036969",
                    "type": "synonym"
                },
                {
                    "name": "Spn77Bb",
                    "type": "synonym"
                },
                {
                    "name": "Spn77",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VWB4-1",
            "evidence": [
                {
                    "id": "0110346",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110346"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VPH9-1",
            "uniprot_ac": "Q9VPH9",
            "uniprot_id": "Q9VPH9_DROME",
            "refseq_ac": "NP_001262103",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG6289-PB",
                    "type": "synonym"
                },
                {
                    "name": "Serpin 77Bc, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Serpin 77Bc, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "Spn77Bc-PB",
                    "type": "synonym"
                },
                {
                    "name": "serpin 77Bc, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Spn77Bc",
                    "type": "recommended"
                },
                {
                    "name": "CG6289",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6289",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG6289",
                    "type": "synonym"
                },
                {
                    "name": "FBgn0036970",
                    "type": "synonym"
                },
                {
                    "name": "Spn77Bc",
                    "type": "synonym"
                },
                {
                    "name": "Spn77",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VPH9-1",
            "evidence": [
                {
                    "id": "0110346",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110346"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110346"
}