{
    "disease_id": "DOID:0112186",
    "recommended_name": {
        "id": "DOID:0112186",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112186",
        "name": "thyroid dyshormonogenesis 2A",
        "description": "A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in TPO on chromosome 2p25.3."
    },
    "synonyms": [
        {
            "id": "DOID:0112186",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112186",
            "name": "TDH2A",
            "description": ""
        },
        {
            "id": "DOID:0112186",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112186",
            "name": "genetic defect in thyroid hormonogenesis 2A",
            "description": ""
        },
        {
            "id": "DOID:0112186",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112186",
            "name": "iodide peroxidase deficiency",
            "description": ""
        },
        {
            "id": "DOID:0112186",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112186",
            "name": "thyroid peroxidase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010133",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010133",
            "name": "thyroid dyshormonogenesis 2A",
            "description": "Thyroid peroxidase system defect due to presumed mutation(s) in the TPO gene, resulting in decreased activity of thyroid peroxidase."
        },
        {
            "id": "MONDO:0010133",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010133",
            "name": "TDH2A",
            "description": ""
        },
        {
            "id": "MONDO:0010133",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010133",
            "name": "TPO familial thyroid dyshormonogenesis",
            "description": ""
        },
        {
            "id": "MONDO:0010133",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010133",
            "name": "familial thyroid dyshormonogenesis caused by mutation in TPO",
            "description": ""
        },
        {
            "id": "MONDO:0010133",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010133",
            "name": "hypothyroidism, congenital, due to dyshormonogenesis, 2A",
            "description": ""
        },
        {
            "id": "MONDO:0010133",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010133",
            "name": "thyroid dyshormonogenesis 2A",
            "description": ""
        },
        {
            "id": "MONDO:0010133",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010133",
            "name": "thyroid dyshormonogenesis type 2A",
            "description": ""
        },
        {
            "id": "MONDO:0010133",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010133",
            "name": "thyroid hormonogenesis, genetic defect in, 2A",
            "description": ""
        },
        {
            "id": "MIM:274500",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/274500",
            "name": "Thyroid dyshormonogenesis 2A",
            "description": "Thyroid dyshormonogenesis 2A"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112186"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112186",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112186",
            "categories": []
        },
        {
            "id": "MONDO:0010133",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010133",
            "categories": []
        },
        {
            "id": "MIM:274500",
            "database": "MIM",
            "url": "https://www.omim.org/entry/274500",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P35419-1",
            "uniprot_ac": "P35419",
            "uniprot_id": "PERT_MOUSE",
            "refseq_ac": "NP_033443",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Thyroid peroxidase",
                    "type": "recommended"
                },
                {
                    "name": "1.11.1.8",
                    "type": "synonym"
                },
                {
                    "name": "TPO",
                    "type": "synonym"
                },
                {
                    "name": "thyroid peroxidase precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tpo",
                    "type": "recommended"
                },
                {
                    "name": "Tpo",
                    "type": "synonym"
                }
            ],
            "record_id": "P35419-1",
            "evidence": [
                {
                    "id": "0112186",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112186"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P07202-1",
            "uniprot_ac": "P07202",
            "uniprot_id": "PERT_HUMAN",
            "refseq_ac": "NP_000538",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Thyroid peroxidase",
                    "type": "recommended"
                },
                {
                    "name": "1.11.1.8",
                    "type": "synonym"
                },
                {
                    "name": "TPO",
                    "type": "synonym"
                },
                {
                    "name": "thyroid microsomal antigen",
                    "type": "synonym"
                },
                {
                    "name": "thyroid peroxidase isoform a precursor",
                    "type": "synonym"
                },
                {
                    "name": "thyroperoxidase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TPO",
                    "type": "recommended"
                },
                {
                    "name": "MSA",
                    "type": "synonym"
                },
                {
                    "name": "TDH2A",
                    "type": "synonym"
                },
                {
                    "name": "TPO",
                    "type": "synonym"
                },
                {
                    "name": "TPX",
                    "type": "synonym"
                }
            ],
            "record_id": "P07202-1",
            "evidence": [
                {
                    "id": "274500",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/274500"
                },
                {
                    "id": "0112186",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112186"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P14650-1",
            "uniprot_ac": "P14650",
            "uniprot_id": "PERT_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": "Thyroid peroxidase",
                    "type": "recommended"
                },
                {
                    "name": "1.11.1.8",
                    "type": "synonym"
                },
                {
                    "name": "TPO",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tpo",
                    "type": "recommended"
                }
            ],
            "record_id": "P14650-1",
            "evidence": [
                {
                    "id": "0112186",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112186"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VCW2-1",
            "uniprot_ac": "Q9VCW2",
            "uniprot_id": "Q9VCW2_DROME",
            "refseq_ac": "NP_651081",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "1.11.1.-",
                    "type": "synonym"
                },
                {
                    "name": "CG6969-PA",
                    "type": "synonym"
                },
                {
                    "name": "Cardinal",
                    "type": "synonym"
                },
                {
                    "name": "cardinal",
                    "type": "synonym"
                },
                {
                    "name": "cd-PA",
                    "type": "synonym"
                },
                {
                    "name": "phenoxazinone synthase",
                    "type": "synonym"
                },
                {
                    "name": "phenoxazinone synthetase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cd",
                    "type": "recommended"
                },
                {
                    "name": "CG6969",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6969",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG6969",
                    "type": "synonym"
                },
                {
                    "name": "HPX6",
                    "type": "synonym"
                },
                {
                    "name": "PHS",
                    "type": "synonym"
                },
                {
                    "name": "cd",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VCW2-1",
            "evidence": [
                {
                    "id": "0112186",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112186"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112186"
}