{
    "disease_id": "DOID:0112188",
    "recommended_name": {
        "id": "DOID:0112188",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112188",
        "name": "thyroid dyshormonogenesis 4",
        "description": "A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in IYD on chromosome 6q25.1."
    },
    "synonyms": [
        {
            "id": "DOID:0112188",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112188",
            "name": "TDH4",
            "description": ""
        },
        {
            "id": "DOID:0112188",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112188",
            "name": "deiodinase deficiency",
            "description": ""
        },
        {
            "id": "DOID:0112188",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112188",
            "name": "genetic defect in thyroid hormonogenesis 4",
            "description": ""
        },
        {
            "id": "DOID:0112188",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112188",
            "name": "iodotyrosine dehalogenase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010136",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010136",
            "name": "thyroid dyshormonogenesis 4",
            "description": "Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the IYD gene."
        },
        {
            "id": "MONDO:0010136",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010136",
            "name": "IYD familial thyroid dyshormonogenesis",
            "description": ""
        },
        {
            "id": "MONDO:0010136",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010136",
            "name": "TDH4",
            "description": ""
        },
        {
            "id": "MONDO:0010136",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010136",
            "name": "familial thyroid dyshormonogenesis caused by mutation in IYD",
            "description": ""
        },
        {
            "id": "MONDO:0010136",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010136",
            "name": "hypothyroidism, congenital, due to dyshormonogenesis, 4",
            "description": ""
        },
        {
            "id": "MONDO:0010136",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010136",
            "name": "thyroid dyshormonogenesis 4",
            "description": ""
        },
        {
            "id": "MONDO:0010136",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010136",
            "name": "thyroid dyshormonogenesis type 4",
            "description": ""
        },
        {
            "id": "MONDO:0010136",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010136",
            "name": "thyroid hormonogenesis, genetic defect in, 4",
            "description": ""
        },
        {
            "id": "MIM:274800",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/274800",
            "name": "Thyroid dyshormonogenesis 4",
            "description": "Thyroid dyshormonogenesis 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112188"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112188",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112188",
            "categories": []
        },
        {
            "id": "MONDO:0010136",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010136",
            "categories": []
        },
        {
            "id": "MIM:274800",
            "database": "MIM",
            "url": "https://www.omim.org/entry/274800",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E7FDV5-1",
            "uniprot_ac": "E7FDV5",
            "uniprot_id": "IYD_DANRE",
            "refseq_ac": "NP_001311483",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Iodotyrosine deiodinase",
                    "type": "recommended"
                },
                {
                    "name": "1.21.1.1",
                    "type": "synonym"
                },
                {
                    "name": "Halotyrosine dehalogenase",
                    "type": "synonym"
                },
                {
                    "name": "halotyrosine dehalogenase",
                    "type": "synonym"
                },
                {
                    "name": "iodotyrosine deiodinase 1",
                    "type": "synonym"
                },
                {
                    "name": "iodotyrosine deiodinase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "iyd",
                    "type": "recommended"
                },
                {
                    "name": "iyd",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-286f9.2",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-3p8.3",
                    "type": "synonym"
                }
            ],
            "record_id": "E7FDV5-1",
            "evidence": [
                {
                    "id": "0112188",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112188"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9DCX8-1",
            "uniprot_ac": "Q9DCX8",
            "uniprot_id": "IYD1_MOUSE",
            "refseq_ac": "NP_081667",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Iodotyrosine deiodinase 1",
                    "type": "recommended"
                },
                {
                    "name": "1.21.1.1",
                    "type": "synonym"
                },
                {
                    "name": "IYD-1",
                    "type": "synonym"
                },
                {
                    "name": "Iodotyrosine dehalogenase 1",
                    "type": "synonym"
                },
                {
                    "name": "iodotyrosine dehalogenase 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "iodotyrosine deiodinase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Iyd",
                    "type": "recommended"
                },
                {
                    "name": "0610009A07Rik",
                    "type": "synonym"
                },
                {
                    "name": "Dehal1",
                    "type": "synonym"
                },
                {
                    "name": "IYD-1",
                    "type": "synonym"
                },
                {
                    "name": "Iyd",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9DCX8-1",
            "evidence": [
                {
                    "id": "0112188",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112188"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6PHW0-1",
            "uniprot_ac": "Q6PHW0",
            "uniprot_id": "IYD1_HUMAN",
            "refseq_ac": "NP_001158166",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Iodotyrosine deiodinase 1",
                    "type": "recommended"
                },
                {
                    "name": "1.21.1.1",
                    "type": "synonym"
                },
                {
                    "name": "IYD-1",
                    "type": "synonym"
                },
                {
                    "name": "Iodotyrosine dehalogenase 1",
                    "type": "synonym"
                },
                {
                    "name": "iodotyrosine dehalogenase 1",
                    "type": "synonym"
                },
                {
                    "name": "iodotyrosine deiodinase 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "iodotyrosine deiodinase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "IYD",
                    "type": "recommended"
                },
                {
                    "name": "C6orf71",
                    "type": "synonym"
                },
                {
                    "name": "DEHAL1",
                    "type": "synonym"
                },
                {
                    "name": "IYD-1",
                    "type": "synonym"
                },
                {
                    "name": "IYD",
                    "type": "synonym"
                },
                {
                    "name": "TDH4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6PHW0-1",
            "evidence": [
                {
                    "id": "274800",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/274800"
                },
                {
                    "id": "0112188",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112188"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5BK17-1",
            "uniprot_ac": "Q5BK17",
            "uniprot_id": "IYD1_RAT",
            "refseq_ac": "NP_001020171",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Iodotyrosine deiodinase 1",
                    "type": "recommended"
                },
                {
                    "name": "1.21.1.1",
                    "type": "synonym"
                },
                {
                    "name": "IYD-1",
                    "type": "synonym"
                },
                {
                    "name": "Iodotyrosine dehalogenase 1",
                    "type": "synonym"
                },
                {
                    "name": "iodotyrosine dehalogenase 1",
                    "type": "synonym"
                },
                {
                    "name": "iodotyrosine deiodinase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Iyd",
                    "type": "recommended"
                },
                {
                    "name": "Dehal1",
                    "type": "synonym"
                },
                {
                    "name": "Iyd",
                    "type": "synonym"
                },
                {
                    "name": "RGD1309288",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5BK17-1",
            "evidence": [
                {
                    "id": "0112188",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112188"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "E1JIB2-1",
            "uniprot_ac": "E1JIB2",
            "uniprot_id": "IYD_DROME",
            "refseq_ac": "NP_001163414",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Iodotyrosine deiodinase",
                    "type": "recommended"
                },
                {
                    "name": "1.21.1.1",
                    "type": "synonym"
                },
                {
                    "name": "CG46438-PB",
                    "type": "synonym"
                },
                {
                    "name": "Halotyrosine dehalogenase",
                    "type": "synonym"
                },
                {
                    "name": "Iyd-PB",
                    "type": "synonym"
                },
                {
                    "name": "Protein condet",
                    "type": "synonym"
                },
                {
                    "name": "condet",
                    "type": "synonym"
                },
                {
                    "name": "iodotyrosine deiodinase, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "iodotyrosine deiodinase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Iyd",
                    "type": "recommended"
                },
                {
                    "name": "CG46438",
                    "type": "synonym"
                },
                {
                    "name": "CG6279-PB",
                    "type": "synonym"
                },
                {
                    "name": "CG6279",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG46438",
                    "type": "synonym"
                },
                {
                    "name": "IYD",
                    "type": "synonym"
                },
                {
                    "name": "Iyd",
                    "type": "synonym"
                },
                {
                    "name": "cdt",
                    "type": "synonym"
                },
                {
                    "name": "dmIYD",
                    "type": "synonym"
                }
            ],
            "record_id": "E1JIB2-1",
            "evidence": [
                {
                    "id": "0112188",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112188"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112188"
}