{
    "disease_id": "DOID:0110336",
    "recommended_name": {
        "id": "DOID:0110336",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110336",
        "name": "osteogenesis imperfecta type 8",
        "description": "An osteogenesis imperfecta that has_material_basis_in mutation in the P3H1 gene on chromosome 1p34.2."
    },
    "synonyms": [
        {
            "id": "DOID:0110336",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110336",
            "name": "OI8",
            "description": ""
        },
        {
            "id": "DOID:0110336",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110336",
            "name": "osteogenesis imperfecta type VIII",
            "description": ""
        },
        {
            "id": "MONDO:0012581",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012581",
            "name": "osteogenesis imperfecta type 8",
            "description": "Any osteogenesis imperfecta in which the cause of the disease is a mutation in the P3H1 gene."
        },
        {
            "id": "MONDO:0012581",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012581",
            "name": "OI8",
            "description": ""
        },
        {
            "id": "MONDO:0012581",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012581",
            "name": "P3H1 osteogenesis imperfecta",
            "description": ""
        },
        {
            "id": "MONDO:0012581",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012581",
            "name": "osteogenesis imperfecta caused by mutation in P3H1",
            "description": ""
        },
        {
            "id": "MONDO:0012581",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012581",
            "name": "osteogenesis imperfecta type 8",
            "description": ""
        },
        {
            "id": "MONDO:0012581",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012581",
            "name": "OI type VIII",
            "description": ""
        },
        {
            "id": "MONDO:0012581",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012581",
            "name": "osteogenesis imperfecta, type VIII",
            "description": ""
        },
        {
            "id": "MIM:610915",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/610915",
            "name": "Osteogenesis imperfecta 8",
            "description": "Osteogenesis imperfecta 8"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110336"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110336",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110336",
            "categories": []
        },
        {
            "id": "MONDO:0012581",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012581",
            "categories": []
        },
        {
            "id": "MIM:610915",
            "database": "MIM",
            "url": "https://www.omim.org/entry/610915",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A0R4I9E8-1",
            "uniprot_ac": "A0A0R4I9E8",
            "uniprot_id": "A0A0R4I9E8_DANRE",
            "refseq_ac": "XP_002663865",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "procollagen-proline 3-dioxygenase",
                    "type": "recommended"
                },
                {
                    "name": "1.14.11.7",
                    "type": "synonym"
                },
                {
                    "name": "prolyl 3-hydroxylase 1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "p3h1",
                    "type": "recommended"
                },
                {
                    "name": "p3h1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0R4I9E8-1",
            "evidence": [
                {
                    "id": "0110336",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110336"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q3V1T4-1",
            "uniprot_ac": "Q3V1T4",
            "uniprot_id": "P3H1_MOUSE",
            "refseq_ac": "NP_001035874",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Prolyl 3-hydroxylase 1",
                    "type": "recommended"
                },
                {
                    "name": "1.14.11.7",
                    "type": "synonym"
                },
                {
                    "name": "Growth suppressor 1",
                    "type": "synonym"
                },
                {
                    "name": "Leprecan-1",
                    "type": "synonym"
                },
                {
                    "name": "Leucine- and proline-enriched proteoglycan 1",
                    "type": "synonym"
                },
                {
                    "name": "growth suppressor 1",
                    "type": "synonym"
                },
                {
                    "name": "leprecan 1",
                    "type": "synonym"
                },
                {
                    "name": "leucine- and proline-enriched proteoglycan 1",
                    "type": "synonym"
                },
                {
                    "name": "prolyl 3-hydroxylase 1 isoform 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "P3h1",
                    "type": "recommended"
                },
                {
                    "name": "2410024C15Rik",
                    "type": "synonym"
                },
                {
                    "name": "Gros1",
                    "type": "synonym"
                },
                {
                    "name": "Lepre1",
                    "type": "synonym"
                },
                {
                    "name": "P3h1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3V1T4-1",
            "evidence": [
                {
                    "id": "0110336",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110336"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q32P28-1",
            "uniprot_ac": "Q32P28",
            "uniprot_id": "P3H1_HUMAN",
            "refseq_ac": "NP_001139761",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Prolyl 3-hydroxylase 1",
                    "type": "recommended"
                },
                {
                    "name": "1.14.11.7",
                    "type": "synonym"
                },
                {
                    "name": "Growth suppressor 1",
                    "type": "synonym"
                },
                {
                    "name": "Leprecan-1",
                    "type": "synonym"
                },
                {
                    "name": "Leucine- and proline-enriched proteoglycan 1",
                    "type": "synonym"
                },
                {
                    "name": "growth suppressor 1",
                    "type": "synonym"
                },
                {
                    "name": "leprecan",
                    "type": "synonym"
                },
                {
                    "name": "leucine proline-enriched proteoglycan (leprecan) 1",
                    "type": "synonym"
                },
                {
                    "name": "leucine- and proline-enriched proteoglycan 1",
                    "type": "synonym"
                },
                {
                    "name": "procollagen-proline 3-dioxygenase",
                    "type": "synonym"
                },
                {
                    "name": "prolyl 3-hydroxylase 1 isoform 2 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "P3H1",
                    "type": "recommended"
                },
                {
                    "name": "GROS1",
                    "type": "synonym"
                },
                {
                    "name": "LEPRE1",
                    "type": "synonym"
                },
                {
                    "name": "OI8",
                    "type": "synonym"
                },
                {
                    "name": "P3H1",
                    "type": "synonym"
                },
                {
                    "name": "PSEC0109",
                    "type": "synonym"
                }
            ],
            "record_id": "Q32P28-1",
            "evidence": [
                {
                    "id": "610915",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/610915"
                },
                {
                    "id": "0110336",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110336"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9R1J8-1",
            "uniprot_ac": "Q9R1J8",
            "uniprot_id": "P3H1_RAT",
            "refseq_ac": "NP_446119",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Prolyl 3-hydroxylase 1",
                    "type": "recommended"
                },
                {
                    "name": "1.14.11.7",
                    "type": "synonym"
                },
                {
                    "name": "Leprecan-1",
                    "type": "synonym"
                },
                {
                    "name": "Leucine- and proline-enriched proteoglycan 1",
                    "type": "synonym"
                },
                {
                    "name": "growth supressor 1",
                    "type": "synonym"
                },
                {
                    "name": "leprecan-1",
                    "type": "synonym"
                },
                {
                    "name": "leucine proline-enriched proteoglycan (leprecan) 1",
                    "type": "synonym"
                },
                {
                    "name": "leucine- and proline-enriched proteoglycan 1",
                    "type": "synonym"
                },
                {
                    "name": "prolyl 3-hydroxylase 1 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "P3h1",
                    "type": "recommended"
                },
                {
                    "name": "Gros1",
                    "type": "synonym"
                },
                {
                    "name": "Lepre1",
                    "type": "synonym"
                },
                {
                    "name": "P3h1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9R1J8-1",
            "evidence": [
                {
                    "id": "0110336",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110336"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110336"
}