{
    "disease_id": "DOID:0112189",
    "recommended_name": {
        "id": "DOID:0112189",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112189",
        "name": "thyroid dyshormonogenesis 6",
        "description": "A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in DUOX2 on chromosome 15q21.1."
    },
    "synonyms": [
        {
            "id": "DOID:0112189",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112189",
            "name": "TDH6",
            "description": ""
        },
        {
            "id": "DOID:0112189",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112189",
            "name": "genetic defect in thyroid hormonogenesis 6",
            "description": ""
        },
        {
            "id": "MONDO:0011792",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011792",
            "name": "thyroid dyshormonogenesis 6",
            "description": "Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the DUOX2 gene."
        },
        {
            "id": "MONDO:0011792",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011792",
            "name": "DUOX2 familial thyroid dyshormonogenesis",
            "description": ""
        },
        {
            "id": "MONDO:0011792",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011792",
            "name": "familial thyroid dyshormonogenesis caused by mutation in DUOX2",
            "description": ""
        },
        {
            "id": "MONDO:0011792",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011792",
            "name": "thyroid dyshormonogenesis 6",
            "description": ""
        },
        {
            "id": "MONDO:0011792",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011792",
            "name": "thyroid dyshormonogenesis type 6",
            "description": ""
        },
        {
            "id": "MONDO:0011792",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011792",
            "name": "TDH6",
            "description": ""
        },
        {
            "id": "MIM:607200",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/607200",
            "name": "Thyroid dyshormonogenesis 6",
            "description": "Thyroid dyshormonogenesis 6"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112189"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112189",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112189",
            "categories": []
        },
        {
            "id": "MONDO:0011792",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011792",
            "categories": []
        },
        {
            "id": "MIM:607200",
            "database": "MIM",
            "url": "https://www.omim.org/entry/607200",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AC58IYT3-1",
            "uniprot_ac": "A0AC58IYT3",
            "uniprot_id": "A0AC58IYT3_DANRE",
            "refseq_ac": "XP_073799394",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "NAD(P)H oxidase (H2O2-forming)",
                    "type": "recommended"
                },
                {
                    "name": "1.6.3.1",
                    "type": "synonym"
                },
                {
                    "name": "dual oxidase 1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "duox",
                    "type": "recommended"
                },
                {
                    "name": "duox",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58IYT3-1",
            "evidence": [
                {
                    "id": "0112189",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112189"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A494BAW1-1",
            "uniprot_ac": "A0A494BAW1",
            "uniprot_id": "A0A494BAW1_MOUSE",
            "refseq_ac": "NP_001349684",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "NAD(P)H oxidase (H2O2-forming)",
                    "type": "recommended"
                },
                {
                    "name": "1.6.3.1",
                    "type": "synonym"
                },
                {
                    "name": "dual oxidase 2 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Duox2",
                    "type": "recommended"
                },
                {
                    "name": "A430065P05Rik",
                    "type": "synonym"
                },
                {
                    "name": "Duox2",
                    "type": "synonym"
                },
                {
                    "name": "LNOX2",
                    "type": "synonym"
                },
                {
                    "name": "NOXEF2",
                    "type": "synonym"
                },
                {
                    "name": "P138-TOX",
                    "type": "synonym"
                },
                {
                    "name": "THOX2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A494BAW1-1",
            "evidence": [
                {
                    "id": "0112189",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112189"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NRD8-1",
            "uniprot_ac": "Q9NRD8",
            "uniprot_id": "DUOX2_HUMAN",
            "refseq_ac": "NP_054799",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dual oxidase 2",
                    "type": "recommended"
                },
                {
                    "name": "1.-.-.-",
                    "type": "synonym"
                },
                {
                    "name": "1.11.1.-",
                    "type": "synonym"
                },
                {
                    "name": "1.6.3.1",
                    "type": "synonym"
                },
                {
                    "name": "Large NOX 2",
                    "type": "synonym"
                },
                {
                    "name": "Long NOX 2",
                    "type": "synonym"
                },
                {
                    "name": "NADH/NADPH thyroid oxidase p138-tox",
                    "type": "synonym"
                },
                {
                    "name": "NADPH oxidase/peroxidase DUOX2",
                    "type": "synonym"
                },
                {
                    "name": "NADPH thyroid oxidase 2",
                    "type": "synonym"
                },
                {
                    "name": "Thyroid oxidase 2",
                    "type": "synonym"
                },
                {
                    "name": "dual oxidase 2 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "dual oxidase-like domains 2",
                    "type": "synonym"
                },
                {
                    "name": "flavoprotein NADPH oxidase",
                    "type": "synonym"
                },
                {
                    "name": "large NOX 2",
                    "type": "synonym"
                },
                {
                    "name": "long NOX 2",
                    "type": "synonym"
                },
                {
                    "name": "nicotinamide adenine dinucleotide phosphate oxidase",
                    "type": "synonym"
                },
                {
                    "name": "p138 thyroid oxidase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DUOX2",
                    "type": "recommended"
                },
                {
                    "name": "DUOX2",
                    "type": "synonym"
                },
                {
                    "name": "LNOX2",
                    "type": "synonym"
                },
                {
                    "name": "NOXEF2",
                    "type": "synonym"
                },
                {
                    "name": "P138-TOX",
                    "type": "synonym"
                },
                {
                    "name": "TDH6",
                    "type": "synonym"
                },
                {
                    "name": "THOX2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NRD8-1",
            "evidence": [
                {
                    "id": "607200",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/607200"
                },
                {
                    "id": "0112189",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112189"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q08908-1",
            "uniprot_ac": "Q08908",
            "uniprot_id": "FRE5_YEAST",
            "refseq_ac": "NP_015029",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ferric reductase transmembrane component 5",
                    "type": "recommended"
                },
                {
                    "name": "1.16.1.9",
                    "type": "synonym"
                },
                {
                    "name": "Ferric-chelate reductase 5",
                    "type": "synonym"
                },
                {
                    "name": "putative ferric-chelate reductase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FRE5",
                    "type": "recommended"
                },
                {
                    "name": "FRE5",
                    "type": "synonym"
                },
                {
                    "name": "O6765",
                    "type": "synonym"
                }
            ],
            "record_id": "Q08908-1",
            "evidence": [
                {
                    "id": "0112189",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112189"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q12209-1",
            "uniprot_ac": "Q12209",
            "uniprot_id": "FRE8_YEAST",
            "refseq_ac": "NP_013148",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Probable ferric reductase transmembrane component 8",
                    "type": "recommended"
                },
                {
                    "name": "1.16.1.7",
                    "type": "synonym"
                },
                {
                    "name": "Ferric-chelate reductase 8",
                    "type": "synonym"
                },
                {
                    "name": "putative ferric-chelate reductase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FRE8",
                    "type": "recommended"
                },
                {
                    "name": "FRE8",
                    "type": "synonym"
                },
                {
                    "name": "L2114",
                    "type": "synonym"
                }
            ],
            "record_id": "Q12209-1",
            "evidence": [
                {
                    "id": "0112189",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112189"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P53109-1",
            "uniprot_ac": "P53109",
            "uniprot_id": "AIM14_YEAST",
            "refseq_ac": "NP_011355",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Probable metalloreductase AIM14",
                    "type": "recommended"
                },
                {
                    "name": "1.16.1.-",
                    "type": "synonym"
                },
                {
                    "name": "Altered inheritance of mitochondria protein 14",
                    "type": "synonym"
                },
                {
                    "name": "putative metalloreductase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "AIM14",
                    "type": "recommended"
                },
                {
                    "name": "AIM14",
                    "type": "synonym"
                },
                {
                    "name": "G1837",
                    "type": "synonym"
                },
                {
                    "name": "YNO1",
                    "type": "synonym"
                }
            ],
            "record_id": "P53109-1",
            "evidence": [
                {
                    "id": "0112189",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112189"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9ES45-1",
            "uniprot_ac": "Q9ES45",
            "uniprot_id": "DUOX2_RAT",
            "refseq_ac": "NP_077055",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dual oxidase 2",
                    "type": "recommended"
                },
                {
                    "name": "1.-.-.-",
                    "type": "synonym"
                },
                {
                    "name": "1.11.1.-",
                    "type": "synonym"
                },
                {
                    "name": "1.6.3.1",
                    "type": "synonym"
                },
                {
                    "name": "Large NOX 2",
                    "type": "synonym"
                },
                {
                    "name": "Long NOX 2",
                    "type": "synonym"
                },
                {
                    "name": "NADH/NADPH thyroid oxidase THOX2",
                    "type": "synonym"
                },
                {
                    "name": "Thyroid oxidase 2",
                    "type": "synonym"
                },
                {
                    "name": "dual oxidase 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "large NOX 2",
                    "type": "synonym"
                },
                {
                    "name": "long NOX 2",
                    "type": "synonym"
                },
                {
                    "name": "thyroid oxidase 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Duox2",
                    "type": "recommended"
                },
                {
                    "name": "Duox2",
                    "type": "synonym"
                },
                {
                    "name": "Lnox2",
                    "type": "synonym"
                },
                {
                    "name": "Thox2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9ES45-1",
            "evidence": [
                {
                    "id": "0112189",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112189"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VQH2-1",
            "uniprot_ac": "Q9VQH2",
            "uniprot_id": "DUOX_DROME",
            "refseq_ac": "NP_001259968",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dual oxidase",
                    "type": "recommended"
                },
                {
                    "name": "1.11.1.-",
                    "type": "synonym"
                },
                {
                    "name": "1.6.3.1",
                    "type": "synonym"
                },
                {
                    "name": "CG3131-PC",
                    "type": "synonym"
                },
                {
                    "name": "Duox-PC",
                    "type": "synonym"
                },
                {
                    "name": "NADPH dual oxidase",
                    "type": "synonym"
                },
                {
                    "name": "curly",
                    "type": "synonym"
                },
                {
                    "name": "dual oxidase, isoform C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Duox",
                    "type": "recommended"
                },
                {
                    "name": "CG3131",
                    "type": "synonym"
                },
                {
                    "name": "Cy",
                    "type": "synonym"
                },
                {
                    "name": "DUOX",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3131",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG3131",
                    "type": "synonym"
                },
                {
                    "name": "DuoX",
                    "type": "synonym"
                },
                {
                    "name": "Duox",
                    "type": "synonym"
                },
                {
                    "name": "dDuox",
                    "type": "synonym"
                },
                {
                    "name": "dduox",
                    "type": "synonym"
                },
                {
                    "name": "duOx",
                    "type": "synonym"
                },
                {
                    "name": "duox",
                    "type": "synonym"
                },
                {
                    "name": "l(2)23Bb",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VQH2-1",
            "evidence": [
                {
                    "id": "0112189",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112189"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112189"
}