{
    "disease_id": "DOID:0070128",
    "recommended_name": {
        "id": "DOID:0070128",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070128",
        "name": "congenital nongoitrous hypothyroidism 6",
        "description": "A congenital hypothyroidism that has_material_basis_in heterozygous mutation in the THRA gene on chromosome 17q21.1."
    },
    "synonyms": [
        {
            "id": "DOID:0070128",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070128",
            "name": "CHNG6",
            "description": ""
        },
        {
            "id": "MONDO:0013757",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013757",
            "name": "congenital nongoitrous hypothyroidism 6",
            "description": "Any hypothyroidism, congenital, nongoitrous in which the cause of the disease is a mutation in the THRA gene."
        },
        {
            "id": "MONDO:0013757",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013757",
            "name": "CHNG6",
            "description": ""
        },
        {
            "id": "MONDO:0013757",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013757",
            "name": "THRA hypothyroidism, congenital, nongoitrous",
            "description": ""
        },
        {
            "id": "MONDO:0013757",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013757",
            "name": "hypothyroidism, congenital, nongoitrous caused by mutation in THRA",
            "description": ""
        },
        {
            "id": "MONDO:0013757",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013757",
            "name": "hypothyroidism, congenital, nongoitrous, 6",
            "description": ""
        },
        {
            "id": "MONDO:0013757",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013757",
            "name": "hypothyroidism, congenital, nongoitrous, type 6",
            "description": ""
        },
        {
            "id": "MIM:614450",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614450",
            "name": "Hypothyroidism, congenital, non-goitrous, 6",
            "description": "Hypothyroidism, congenital, non-goitrous, 6"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070128"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070128",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070128",
            "categories": []
        },
        {
            "id": "MONDO:0013757",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013757",
            "categories": []
        },
        {
            "id": "MIM:614450",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614450",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q98867-1",
            "uniprot_ac": "Q98867",
            "uniprot_id": "THAA_DANRE",
            "refseq_ac": "NP_571471",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Thyroid hormone receptor alpha-A",
                    "type": "recommended"
                },
                {
                    "name": "NR1A1-A",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear receptor subfamily 1 group A member 1-A",
                    "type": "synonym"
                },
                {
                    "name": "TRalpha-1",
                    "type": "synonym"
                },
                {
                    "name": "Thyroid hormone receptor alpha-1",
                    "type": "synonym"
                },
                {
                    "name": "c-erbA",
                    "type": "synonym"
                },
                {
                    "name": "nr1a1a",
                    "type": "synonym"
                },
                {
                    "name": "nuclear receptor subfamily 1 group A member 1-A",
                    "type": "synonym"
                },
                {
                    "name": "thyroid hormone receptor alpha-1",
                    "type": "synonym"
                },
                {
                    "name": "thyroid hormone receptor alpha-A",
                    "type": "synonym"
                },
                {
                    "name": "zTRalpha-A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "thraa",
                    "type": "recommended"
                },
                {
                    "name": "TR[a]1",
                    "type": "synonym"
                },
                {
                    "name": "nr1a1a",
                    "type": "synonym"
                },
                {
                    "name": "nr1a1",
                    "type": "synonym"
                },
                {
                    "name": "thr1",
                    "type": "synonym"
                },
                {
                    "name": "thraa1",
                    "type": "synonym"
                },
                {
                    "name": "thraa",
                    "type": "synonym"
                },
                {
                    "name": "thral",
                    "type": "synonym"
                },
                {
                    "name": "thra",
                    "type": "synonym"
                },
                {
                    "name": "tra1",
                    "type": "synonym"
                },
                {
                    "name": "tra",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb59g07",
                    "type": "synonym"
                }
            ],
            "record_id": "Q98867-1",
            "evidence": [
                {
                    "id": "0070128",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070128"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "U3JAT9-1",
            "uniprot_ac": "U3JAT9",
            "uniprot_id": "U3JAT9_DANRE",
            "refseq_ac": "XP_001921013",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Thyroid hormone receptor alpha isoform X3",
                    "type": "synonym"
                },
                {
                    "name": "thyroid hormone receptor alpha isoform X3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "thrab",
                    "type": "recommended"
                },
                {
                    "name": "thrab",
                    "type": "synonym"
                }
            ],
            "record_id": "U3JAT9-1",
            "evidence": [
                {
                    "id": "0070128",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070128"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P63058-1",
            "uniprot_ac": "P63058",
            "uniprot_id": "THA_MOUSE",
            "refseq_ac": "NP_001300912",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Thyroid hormone receptor alpha",
                    "type": "recommended"
                },
                {
                    "name": "Nuclear receptor subfamily 1 group A member 1",
                    "type": "synonym"
                },
                {
                    "name": "TR alpha 1",
                    "type": "synonym"
                },
                {
                    "name": "TR alpha 2",
                    "type": "synonym"
                },
                {
                    "name": "c-erbA-1",
                    "type": "synonym"
                },
                {
                    "name": "c-erbA-alpha",
                    "type": "synonym"
                },
                {
                    "name": "nuclear receptor subfamily 1 group A member 1",
                    "type": "synonym"
                },
                {
                    "name": "thyroid hormone receptor alpha isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Thra",
                    "type": "recommended"
                },
                {
                    "name": "6430529J03Rik",
                    "type": "synonym"
                },
                {
                    "name": "C-erba-alpha",
                    "type": "synonym"
                },
                {
                    "name": "Erba",
                    "type": "synonym"
                },
                {
                    "name": "Nr1a1",
                    "type": "synonym"
                },
                {
                    "name": "Rvr",
                    "type": "synonym"
                },
                {
                    "name": "T3R[a]",
                    "type": "synonym"
                },
                {
                    "name": "T3Ralpha",
                    "type": "synonym"
                },
                {
                    "name": "Thra1",
                    "type": "synonym"
                },
                {
                    "name": "Thra2",
                    "type": "synonym"
                },
                {
                    "name": "Thra",
                    "type": "synonym"
                },
                {
                    "name": "c-erbA-1",
                    "type": "synonym"
                },
                {
                    "name": "c-erbA-alpha",
                    "type": "synonym"
                },
                {
                    "name": "c-erbAalpha",
                    "type": "synonym"
                }
            ],
            "record_id": "P63058-1",
            "evidence": [
                {
                    "id": "0070128",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070128"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P10827-1",
            "uniprot_ac": "P10827",
            "uniprot_id": "THA_HUMAN",
            "refseq_ac": "NP_001177847",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Thyroid hormone receptor alpha",
                    "type": "recommended"
                },
                {
                    "name": "EAR-7",
                    "type": "synonym"
                },
                {
                    "name": "ERBA-related 7",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear receptor subfamily 1 group A member 1",
                    "type": "synonym"
                },
                {
                    "name": "V-erbA-related protein 7",
                    "type": "synonym"
                },
                {
                    "name": "c-erbA protooncogene",
                    "type": "synonym"
                },
                {
                    "name": "c-erbA-1",
                    "type": "synonym"
                },
                {
                    "name": "c-erbA-alpha",
                    "type": "synonym"
                },
                {
                    "name": "nuclear receptor subfamily 1 group A member 1",
                    "type": "synonym"
                },
                {
                    "name": "thyroid hormone receptor alpha 1",
                    "type": "synonym"
                },
                {
                    "name": "thyroid hormone receptor alpha isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "thyroid hormone receptor, alpha (erythroblastic leukemia viral (v-erb-a) oncogene homolog, avian)",
                    "type": "synonym"
                },
                {
                    "name": "triiodothyronine receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "THRA",
                    "type": "recommended"
                },
                {
                    "name": "AR7",
                    "type": "synonym"
                },
                {
                    "name": "CHNG6",
                    "type": "synonym"
                },
                {
                    "name": "EAR7",
                    "type": "synonym"
                },
                {
                    "name": "ERB-T-1",
                    "type": "synonym"
                },
                {
                    "name": "ERBA1",
                    "type": "synonym"
                },
                {
                    "name": "ERBA",
                    "type": "synonym"
                },
                {
                    "name": "NR1A1",
                    "type": "synonym"
                },
                {
                    "name": "THRA1",
                    "type": "synonym"
                },
                {
                    "name": "THRA2",
                    "type": "synonym"
                },
                {
                    "name": "THRA",
                    "type": "synonym"
                },
                {
                    "name": "THRalpha1",
                    "type": "synonym"
                },
                {
                    "name": "THRalpha2",
                    "type": "synonym"
                },
                {
                    "name": "THRalpha",
                    "type": "synonym"
                },
                {
                    "name": "TRalpha1",
                    "type": "synonym"
                },
                {
                    "name": "TRalpha2",
                    "type": "synonym"
                },
                {
                    "name": "TRalpha",
                    "type": "synonym"
                },
                {
                    "name": "c-ERBA-1",
                    "type": "synonym"
                },
                {
                    "name": "c-erbA",
                    "type": "synonym"
                }
            ],
            "record_id": "P10827-1",
            "evidence": [
                {
                    "id": "614450",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614450"
                },
                {
                    "id": "0070128",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070128"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P63059-1",
            "uniprot_ac": "P63059",
            "uniprot_id": "THA_RAT",
            "refseq_ac": "NP_001017960",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Thyroid hormone receptor alpha",
                    "type": "recommended"
                },
                {
                    "name": "C-erbA-alpha",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear receptor subfamily 1 group A member 1",
                    "type": "synonym"
                },
                {
                    "name": "c-erb-A thyroid hormone receptor",
                    "type": "synonym"
                },
                {
                    "name": "c-erbA-1",
                    "type": "synonym"
                },
                {
                    "name": "c-erbA-alpha2",
                    "type": "synonym"
                },
                {
                    "name": "c-erbA-alpha",
                    "type": "synonym"
                },
                {
                    "name": "c-erbAalpha2",
                    "type": "synonym"
                },
                {
                    "name": "nuclear receptor subfamily 1 group A member 1",
                    "type": "synonym"
                },
                {
                    "name": "thyroid hormone receptor alpha 1 (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog 1 formerly ERBA1)",
                    "type": "synonym"
                },
                {
                    "name": "thyroid hormone receptor alpha isoform TRalpha1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Thra",
                    "type": "recommended"
                },
                {
                    "name": "C-erba-alpha",
                    "type": "synonym"
                },
                {
                    "name": "ERBA1",
                    "type": "synonym"
                },
                {
                    "name": "Nr1a1",
                    "type": "synonym"
                },
                {
                    "name": "Thra1",
                    "type": "synonym"
                },
                {
                    "name": "Thra",
                    "type": "synonym"
                },
                {
                    "name": "c-erbA-1",
                    "type": "synonym"
                }
            ],
            "record_id": "P63059-1",
            "evidence": [
                {
                    "id": "0070128",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070128"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070128"
}