{
    "disease_id": "DOID:0112187",
    "recommended_name": {
        "id": "DOID:0112187",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112187",
        "name": "thyroid dyshormonogenesis 3",
        "description": "A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in TG on chromosome 8q24.22."
    },
    "synonyms": [
        {
            "id": "DOID:0112187",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112187",
            "name": "TDH3",
            "description": ""
        },
        {
            "id": "DOID:0112187",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112187",
            "name": "genetic defect in thyroid hormonogenesis 3",
            "description": ""
        },
        {
            "id": "MONDO:0010135",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010135",
            "name": "thyroid dyshormonogenesis 3",
            "description": "Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the TG gene."
        },
        {
            "id": "MONDO:0010135",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010135",
            "name": "TDH3",
            "description": ""
        },
        {
            "id": "MONDO:0010135",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010135",
            "name": "TG familial thyroid dyshormonogenesis",
            "description": ""
        },
        {
            "id": "MONDO:0010135",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010135",
            "name": "familial thyroid dyshormonogenesis caused by mutation in TG",
            "description": ""
        },
        {
            "id": "MONDO:0010135",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010135",
            "name": "hypothyroidism, congenital, due to dyshormonogenesis, 3",
            "description": ""
        },
        {
            "id": "MONDO:0010135",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010135",
            "name": "thyroid dyshormonogenesis 3",
            "description": ""
        },
        {
            "id": "MONDO:0010135",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010135",
            "name": "thyroid dyshormonogenesis type 3",
            "description": ""
        },
        {
            "id": "MONDO:0010135",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010135",
            "name": "thyroid hormonogenesis, genetic defect in, 3",
            "description": ""
        },
        {
            "id": "MIM:274700",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/274700",
            "name": "Thyroid dyshormonogenesis 3",
            "description": "Thyroid dyshormonogenesis 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112187"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112187",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112187",
            "categories": []
        },
        {
            "id": "MONDO:0010135",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010135",
            "categories": []
        },
        {
            "id": "MIM:274700",
            "database": "MIM",
            "url": "https://www.omim.org/entry/274700",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "O08710-1",
            "uniprot_ac": "O08710",
            "uniprot_id": "THYG_MOUSE",
            "refseq_ac": "NP_033401",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Thyroglobulin",
                    "type": "recommended"
                },
                {
                    "name": "Tg",
                    "type": "synonym"
                },
                {
                    "name": "congenital goiter",
                    "type": "synonym"
                },
                {
                    "name": "thyroglobulin precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tg",
                    "type": "recommended"
                },
                {
                    "name": "Tgn",
                    "type": "synonym"
                },
                {
                    "name": "Tg",
                    "type": "synonym"
                },
                {
                    "name": "cog",
                    "type": "synonym"
                }
            ],
            "record_id": "O08710-1",
            "evidence": [
                {
                    "id": "0112187",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112187"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P01266-1",
            "uniprot_ac": "P01266",
            "uniprot_id": "THYG_HUMAN",
            "refseq_ac": "NP_003226",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Thyroglobulin",
                    "type": "recommended"
                },
                {
                    "name": "Tg",
                    "type": "synonym"
                },
                {
                    "name": "thyroglobulin precursor",
                    "type": "synonym"
                },
                {
                    "name": "thyroid hormones",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TG",
                    "type": "recommended"
                },
                {
                    "name": "AITD3",
                    "type": "synonym"
                },
                {
                    "name": "TGN",
                    "type": "synonym"
                },
                {
                    "name": "TG",
                    "type": "synonym"
                }
            ],
            "record_id": "P01266-1",
            "evidence": [
                {
                    "id": "274700",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/274700"
                },
                {
                    "id": "0112187",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112187"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P06882-1",
            "uniprot_ac": "P06882",
            "uniprot_id": "THYG_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Thyroglobulin",
                    "type": "recommended"
                },
                {
                    "name": "Tg",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tg",
                    "type": "recommended"
                }
            ],
            "record_id": "P06882-1",
            "evidence": [
                {
                    "id": "0112187",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112187"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112187"
}