{
    "disease_id": "DOID:0111848",
    "recommended_name": {
        "id": "DOID:0111848",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111848",
        "name": "osteogenesis imperfecta type 18",
        "description": "An osteogenesis imperfecta characterized by congenital bowing of the long bones, wormian bones, blue sclerae, vertebral collapse, and multiple fractures in the first years of life that has_material_basis_in homozygous or compound heterozygous mutation in TENT5A on chromosome 6q14.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111848",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111848",
            "name": "OI18",
            "description": ""
        },
        {
            "id": "DOID:0111848",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111848",
            "name": "osteogenesis imperfecta, type XVIII",
            "description": ""
        },
        {
            "id": "MONDO:0044329",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044329",
            "name": "osteogenesis imperfecta, type 18",
            "description": "Osteogenesis imperfecta type XVIII (OI18) is characterized by congenital bowing of the long bones, wormian bones, blue sclerae, vertebral collapse, and multiple fractures in the first years of life ({1:Doyard et al., 2018})."
        },
        {
            "id": "MONDO:0044329",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044329",
            "name": "OI18",
            "description": ""
        },
        {
            "id": "MIM:617952",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617952",
            "name": "Osteogenesis imperfecta 18",
            "description": "Osteogenesis imperfecta 18"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111848"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111848",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111848",
            "categories": []
        },
        {
            "id": "MONDO:0044329",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044329",
            "categories": []
        },
        {
            "id": "MIM:617952",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617952",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A2R8Q5S3-1",
            "uniprot_ac": "A0A2R8Q5S3",
            "uniprot_id": "A0A2R8Q5S3_DANRE",
            "refseq_ac": "XP_005157917",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "polynucleotide adenylyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.19",
                    "type": "synonym"
                },
                {
                    "name": "terminal nucleotidyltransferase 5A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tent5aa",
                    "type": "recommended"
                },
                {
                    "name": "tent5aa",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A2R8Q5S3-1",
            "evidence": [
                {
                    "id": "0111848",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111848"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3Z5S8-1",
            "uniprot_ac": "D3Z5S8",
            "uniprot_id": "TET5A_MOUSE",
            "refseq_ac": "NP_001153850",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Terminal nucleotidyltransferase 5A",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.19",
                    "type": "synonym"
                },
                {
                    "name": "family with sequence similarity 46, member A",
                    "type": "synonym"
                },
                {
                    "name": "terminal nucleotidyltransferase 5A isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tent5a",
                    "type": "recommended"
                },
                {
                    "name": "BAP014",
                    "type": "synonym"
                },
                {
                    "name": "D930050G01Rik",
                    "type": "synonym"
                },
                {
                    "name": "Fam46a",
                    "type": "synonym"
                },
                {
                    "name": "Tent5a",
                    "type": "synonym"
                }
            ],
            "record_id": "D3Z5S8-1",
            "evidence": [
                {
                    "id": "0111848",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111848"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96IP4-1",
            "uniprot_ac": "Q96IP4",
            "uniprot_id": "TET5A_HUMAN",
            "refseq_ac": "NP_060103",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Terminal nucleotidyltransferase 5A",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.19",
                    "type": "synonym"
                },
                {
                    "name": "HBV X-transactivated gene 11 protein",
                    "type": "synonym"
                },
                {
                    "name": "HBV XAg-transactivated protein 11",
                    "type": "synonym"
                },
                {
                    "name": "family with sequence similarity 46 member A",
                    "type": "synonym"
                },
                {
                    "name": "protein FAM46A",
                    "type": "synonym"
                },
                {
                    "name": "putative nucleotidyltransferase FAM46A",
                    "type": "synonym"
                },
                {
                    "name": "retinal expressed gene C6orf37",
                    "type": "synonym"
                },
                {
                    "name": "terminal nucleotidyltransferase 5A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TENT5A",
                    "type": "recommended"
                },
                {
                    "name": "C6orf37",
                    "type": "synonym"
                },
                {
                    "name": "FAM46A",
                    "type": "synonym"
                },
                {
                    "name": "OI18",
                    "type": "synonym"
                },
                {
                    "name": "TENT5A",
                    "type": "synonym"
                },
                {
                    "name": "XTP11",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96IP4-1",
            "evidence": [
                {
                    "id": "617952",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617952"
                },
                {
                    "id": "0111848",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111848"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZH34-1",
            "uniprot_ac": "D3ZH34",
            "uniprot_id": "D3ZH34_RAT",
            "refseq_ac": "NP_001100314",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "polynucleotide adenylyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.19",
                    "type": "synonym"
                },
                {
                    "name": "family with sequence similarity 46, member A",
                    "type": "synonym"
                },
                {
                    "name": "terminal nucleotidyltransferase 5A isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tent5a",
                    "type": "recommended"
                },
                {
                    "name": "Fam46a",
                    "type": "synonym"
                },
                {
                    "name": "RGD1311381",
                    "type": "synonym"
                },
                {
                    "name": "Tent5a",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZH34-1",
            "evidence": [
                {
                    "id": "0111848",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111848"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A4P7VA97-1",
            "uniprot_ac": "A0A4P7VA97",
            "uniprot_id": "A0A4P7VA97_DROME",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "polynucleotide adenylyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.19",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CG45093",
                    "type": "recommended"
                },
                {
                    "name": "Dmel\\CG46385",
                    "type": "recommended"
                },
                {
                    "name": "EP(2)2618",
                    "type": "recommended"
                },
                {
                    "name": "NEST:bs36c04",
                    "type": "recommended"
                },
                {
                    "name": "BEST:LD33067",
                    "type": "synonym"
                },
                {
                    "name": "CG1383",
                    "type": "synonym"
                },
                {
                    "name": "CG1557",
                    "type": "synonym"
                },
                {
                    "name": "CG30497",
                    "type": "synonym"
                },
                {
                    "name": "CG30947",
                    "type": "synonym"
                },
                {
                    "name": "CG45093",
                    "type": "synonym"
                },
                {
                    "name": "CG46385",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG46385",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG46385",
                    "type": "synonym"
                },
                {
                    "name": "EP(2)2618",
                    "type": "synonym"
                },
                {
                    "name": "NEST:bs36c04",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0118547.176",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A4P7VA97-1",
            "evidence": [
                {
                    "id": "0111848",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111848"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111848"
}