{
    "disease_id": "DOID:0110343",
    "recommended_name": {
        "id": "DOID:0110343",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110343",
        "name": "osteogenesis imperfecta type 14",
        "description": "An osteogenesis imperfecta that has_material_basis_in mutation in the TMEM38B gene on chromosome 9q31."
    },
    "synonyms": [
        {
            "id": "DOID:0110343",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110343",
            "name": "OI14",
            "description": ""
        },
        {
            "id": "DOID:0110343",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110343",
            "name": "osteogenesis imperfecta type XIV",
            "description": ""
        },
        {
            "id": "MONDO:0014029",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014029",
            "name": "osteogenesis imperfecta type 14",
            "description": "Any osteogenesis imperfecta in which the cause of the disease is a mutation in the TMEM38B gene."
        },
        {
            "id": "MONDO:0014029",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014029",
            "name": "OI14",
            "description": ""
        },
        {
            "id": "MONDO:0014029",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014029",
            "name": "TMEM38B osteogenesis imperfecta",
            "description": ""
        },
        {
            "id": "MONDO:0014029",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014029",
            "name": "osteogenesis imperfecta caused by mutation in TMEM38B",
            "description": ""
        },
        {
            "id": "MONDO:0014029",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014029",
            "name": "osteogenesis imperfecta, type XIV",
            "description": ""
        },
        {
            "id": "MIM:615066",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615066",
            "name": "Osteogenesis imperfecta 14",
            "description": "Osteogenesis imperfecta 14"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110343"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110343",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110343",
            "categories": []
        },
        {
            "id": "MONDO:0014029",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014029",
            "categories": []
        },
        {
            "id": "MIM:615066",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615066",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q7ZVP8-1",
            "uniprot_ac": "Q7ZVP8",
            "uniprot_id": "TM38B_DANRE",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Trimeric intracellular cation channel type B",
                    "type": "recommended"
                },
                {
                    "name": "TRIC-B",
                    "type": "synonym"
                },
                {
                    "name": "TRICB",
                    "type": "synonym"
                },
                {
                    "name": "Transmembrane protein 38B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tmem38b",
                    "type": "recommended"
                },
                {
                    "name": "zgc:55815",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7ZVP8-1",
            "evidence": [
                {
                    "id": "0110343",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110343"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9DAV9-1",
            "uniprot_ac": "Q9DAV9",
            "uniprot_id": "TM38B_MOUSE",
            "refseq_ac": "NP_082329",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Trimeric intracellular cation channel type B",
                    "type": "recommended"
                },
                {
                    "name": "Mitsugumin-33B",
                    "type": "synonym"
                },
                {
                    "name": "Mitsugumin33B",
                    "type": "synonym"
                },
                {
                    "name": "TRIC-B",
                    "type": "synonym"
                },
                {
                    "name": "TRICB",
                    "type": "synonym"
                },
                {
                    "name": "Transmembrane protein 38B",
                    "type": "synonym"
                },
                {
                    "name": "mitsugumin-33B",
                    "type": "synonym"
                },
                {
                    "name": "trimeric intracellular cation channel type B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tmem38b",
                    "type": "recommended"
                },
                {
                    "name": "1600017F22Rik",
                    "type": "synonym"
                },
                {
                    "name": "D4Ertd89e",
                    "type": "synonym"
                },
                {
                    "name": "Mg33b",
                    "type": "synonym"
                },
                {
                    "name": "TRIC-B",
                    "type": "synonym"
                },
                {
                    "name": "Tmem38b",
                    "type": "synonym"
                },
                {
                    "name": "mg33b",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9DAV9-1",
            "evidence": [
                {
                    "id": "0110343",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110343"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NVV0-1",
            "uniprot_ac": "Q9NVV0",
            "uniprot_id": "TM38B_HUMAN",
            "refseq_ac": "NP_060582",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Trimeric intracellular cation channel type B",
                    "type": "recommended"
                },
                {
                    "name": "TRIC-B",
                    "type": "synonym"
                },
                {
                    "name": "TRICB",
                    "type": "synonym"
                },
                {
                    "name": "Transmembrane protein 38B",
                    "type": "synonym"
                },
                {
                    "name": "trimeric intracellular cation channel type B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TMEM38B",
                    "type": "recommended"
                },
                {
                    "name": "C9orf87",
                    "type": "synonym"
                },
                {
                    "name": "D4Ertd89e",
                    "type": "synonym"
                },
                {
                    "name": "OI14",
                    "type": "synonym"
                },
                {
                    "name": "TMEM38B",
                    "type": "synonym"
                },
                {
                    "name": "TRIC-B",
                    "type": "synonym"
                },
                {
                    "name": "TRICB",
                    "type": "synonym"
                },
                {
                    "name": "bA219P18.1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NVV0-1",
            "evidence": [
                {
                    "id": "615066",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615066"
                },
                {
                    "id": "0110343",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110343"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q68FV1-1",
            "uniprot_ac": "Q68FV1",
            "uniprot_id": "TM38B_RAT",
            "refseq_ac": "NP_001014213",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Trimeric intracellular cation channel type B",
                    "type": "recommended"
                },
                {
                    "name": "TRIC-B",
                    "type": "synonym"
                },
                {
                    "name": "TRICB",
                    "type": "synonym"
                },
                {
                    "name": "Transmembrane protein 38B",
                    "type": "synonym"
                },
                {
                    "name": "trimeric intracellular cation channel type B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tmem38b",
                    "type": "recommended"
                },
                {
                    "name": "RGD1305703",
                    "type": "synonym"
                },
                {
                    "name": "Tmem38b",
                    "type": "synonym"
                }
            ],
            "record_id": "Q68FV1-1",
            "evidence": [
                {
                    "id": "0110343",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110343"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q86BI6-1",
            "uniprot_ac": "Q86BI6",
            "uniprot_id": "Q86BI6_DROME",
            "refseq_ac": "NP_001097620",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Trimeric intracellular cation channel type B",
                    "type": "recommended"
                },
                {
                    "name": "CG33061-PB",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG33061",
                    "type": "recommended"
                },
                {
                    "name": "CG13057",
                    "type": "synonym"
                },
                {
                    "name": "CG33061",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG33061",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG33061",
                    "type": "synonym"
                }
            ],
            "record_id": "Q86BI6-1",
            "evidence": [
                {
                    "id": "0110343",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110343"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110343"
}