{
    "disease_id": "DOID:0112184",
    "recommended_name": {
        "id": "DOID:0112184",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112184",
        "name": "thyroid dyshormonogenesis 5",
        "description": "A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in DUOXA2 on chromosome 15q21.1."
    },
    "synonyms": [
        {
            "id": "DOID:0112184",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112184",
            "name": "TDH5",
            "description": ""
        },
        {
            "id": "DOID:0112184",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112184",
            "name": "genetic defect in thyroid hormonogenesis 5",
            "description": ""
        },
        {
            "id": "MONDO:0010137",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010137",
            "name": "thyroid dyshormonogenesis 5",
            "description": "Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the DUOXA2 gene."
        },
        {
            "id": "MONDO:0010137",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010137",
            "name": "DUOXA2 familial thyroid dyshormonogenesis",
            "description": ""
        },
        {
            "id": "MONDO:0010137",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010137",
            "name": "TDH5",
            "description": ""
        },
        {
            "id": "MONDO:0010137",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010137",
            "name": "familial thyroid dyshormonogenesis caused by mutation in DUOXA2",
            "description": ""
        },
        {
            "id": "MONDO:0010137",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010137",
            "name": "hypothyroidism, congenital, due to dyshormonogenesis, 5",
            "description": ""
        },
        {
            "id": "MONDO:0010137",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010137",
            "name": "thyroid dyshormonogenesis 5",
            "description": ""
        },
        {
            "id": "MONDO:0010137",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010137",
            "name": "thyroid dyshormonogenesis type 5",
            "description": ""
        },
        {
            "id": "MONDO:0010137",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010137",
            "name": "thyroid hormonogenesis, genetic defect in, 5",
            "description": ""
        },
        {
            "id": "MIM:274900",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/274900",
            "name": "Thyroid dyshormonogenesis 5",
            "description": "Thyroid dyshormonogenesis 5"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112184"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112184",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112184",
            "categories": []
        },
        {
            "id": "MONDO:0010137",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010137",
            "categories": []
        },
        {
            "id": "MIM:274900",
            "database": "MIM",
            "url": "https://www.omim.org/entry/274900",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AC58IYU3-1",
            "uniprot_ac": "A0AC58IYU3",
            "uniprot_id": "A0AC58IYU3_DANRE",
            "refseq_ac": "XP_073799406",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dual oxidase maturation factor 2 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "dual oxidase maturation factor 2 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "duox2",
                    "type": "recommended"
                },
                {
                    "name": "duoxa",
                    "type": "recommended"
                },
                {
                    "name": "duox2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58IYU3-1",
            "evidence": [
                {
                    "id": "0112184",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112184"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9D311-1",
            "uniprot_ac": "Q9D311",
            "uniprot_id": "DOXA2_MOUSE",
            "refseq_ac": "NP_080053",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dual oxidase maturation factor 2",
                    "type": "recommended"
                },
                {
                    "name": "Numb-interacting protein 2",
                    "type": "synonym"
                },
                {
                    "name": "dual oxidase maturation factor 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Duoxa2",
                    "type": "recommended"
                },
                {
                    "name": "9030623N16Rik",
                    "type": "synonym"
                },
                {
                    "name": "Duoxa2",
                    "type": "synonym"
                },
                {
                    "name": "Nip2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9D311-1",
            "evidence": [
                {
                    "id": "0112184",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112184"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q1HG44-1",
            "uniprot_ac": "Q1HG44",
            "uniprot_id": "DOXA2_HUMAN",
            "refseq_ac": "NP_997464",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dual oxidase maturation factor 2",
                    "type": "recommended"
                },
                {
                    "name": "Dual oxidase activator 2",
                    "type": "synonym"
                },
                {
                    "name": "dual oxidase maturation factor 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DUOXA2",
                    "type": "recommended"
                },
                {
                    "name": "DUOXA2",
                    "type": "synonym"
                },
                {
                    "name": "SIMNIPHOM",
                    "type": "synonym"
                },
                {
                    "name": "TDH5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q1HG44-1",
            "evidence": [
                {
                    "id": "274900",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/274900"
                },
                {
                    "id": "0112184",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112184"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZEJ5-1",
            "uniprot_ac": "D3ZEJ5",
            "uniprot_id": "D3ZEJ5_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dual oxidase maturation factor 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Duoxa2",
                    "type": "recommended"
                }
            ],
            "record_id": "D3ZEJ5-1",
            "evidence": [
                {
                    "id": "0112184",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112184"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VJQ7-1",
            "uniprot_ac": "Q9VJQ7",
            "uniprot_id": "Q9VJQ7_DROME",
            "refseq_ac": "NP_001036362",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG4482-PD",
                    "type": "synonym"
                },
                {
                    "name": "Moladietz, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Moladietz, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "Moladietz, isoform D",
                    "type": "synonym"
                },
                {
                    "name": "Moladietz, isoform F",
                    "type": "synonym"
                },
                {
                    "name": "lethal (2) 35Bb",
                    "type": "synonym"
                },
                {
                    "name": "lethal (2) SH1330",
                    "type": "synonym"
                },
                {
                    "name": "lethal 23 in the black-reduced region",
                    "type": "synonym"
                },
                {
                    "name": "lethal 3 in the black-reduced region",
                    "type": "synonym"
                },
                {
                    "name": "lethal group B1",
                    "type": "synonym"
                },
                {
                    "name": "mol-PD",
                    "type": "synonym"
                },
                {
                    "name": "moladietz, isoform D",
                    "type": "synonym"
                },
                {
                    "name": "numb-interacting protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mol",
                    "type": "recommended"
                },
                {
                    "name": "35Bb",
                    "type": "synonym"
                },
                {
                    "name": "B1",
                    "type": "synonym"
                },
                {
                    "name": "BG:DS01219.1",
                    "type": "synonym"
                },
                {
                    "name": "CG15268",
                    "type": "synonym"
                },
                {
                    "name": "CG4482",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4482",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4482",
                    "type": "synonym"
                },
                {
                    "name": "Mol",
                    "type": "synonym"
                },
                {
                    "name": "NIP",
                    "type": "synonym"
                },
                {
                    "name": "br3",
                    "type": "synonym"
                },
                {
                    "name": "l(2)35Bb",
                    "type": "synonym"
                },
                {
                    "name": "l(2)SH1330",
                    "type": "synonym"
                },
                {
                    "name": "l(2)SH2 1330",
                    "type": "synonym"
                },
                {
                    "name": "l(2)br23",
                    "type": "synonym"
                },
                {
                    "name": "l(2)br3",
                    "type": "synonym"
                },
                {
                    "name": "l35Bb",
                    "type": "synonym"
                },
                {
                    "name": "mol",
                    "type": "synonym"
                },
                {
                    "name": "nip",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VJQ7-1",
            "evidence": [
                {
                    "id": "0112184",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112184"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112184"
}