{
    "disease_id": "DOID:0111374",
    "recommended_name": {
        "id": "DOID:0111374",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111374",
        "name": "selective pituitary thyroid hormone resistance",
        "description": "A hyperthyroidism characterized by mild to moderate hyperthyroidism, impaired pituitary response to thyroid hormone, elevated levels of thyroid hormone, and association with thyrotoxic features that has_material_basis_in heterozygous mutation in the THRB gene on chromosome 3p24.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111374",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111374",
            "name": "PRTH",
            "description": ""
        },
        {
            "id": "DOID:0111374",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111374",
            "name": "pituitary resistance to thyroid hormone",
            "description": ""
        },
        {
            "id": "DOID:0111374",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111374",
            "name": "selective pituitary resistance to thyroid hormone",
            "description": ""
        },
        {
            "id": "DOID:0111374",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111374",
            "name": "familial hyperthyroidism due to inappropriate thyrotropin secretion",
            "description": ""
        },
        {
            "id": "MONDO:0007784",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007784",
            "name": "selective pituitary resistance to thyroid hormone",
            "description": "Pituitary resistance to thyroid hormone is a rare, genetic thyroid disease, due to reduced pituitary gland responsiveness to thyroid hormone, characterized by mild to moderate hyperthyroidism in association with elevated circulating thyroid hormone levels, normal or elevated thyroid stimulating hormone, and no abnormalities of the pituitary gland on MRI. Patients present with diffuse large goiter, tachycardia, atrial fibrillation, weight loss and/or heat intolerance/perspiration, but no exophthalmos or anterior tibial mixedema."
        },
        {
            "id": "MONDO:0007784",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007784",
            "name": "PRTH",
            "description": ""
        },
        {
            "id": "MONDO:0007784",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007784",
            "name": "thyroid hormone resistance, selective pituitary",
            "description": ""
        },
        {
            "id": "MIM:145650",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/145650",
            "name": "Selective pituitary thyroid hormone resistance",
            "description": "Selective pituitary thyroid hormone resistance"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111374"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111374",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111374",
            "categories": []
        },
        {
            "id": "MONDO:0007784",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007784",
            "categories": []
        },
        {
            "id": "MIM:145650",
            "database": "MIM",
            "url": "https://www.omim.org/entry/145650",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9PVE4-1",
            "uniprot_ac": "Q9PVE4",
            "uniprot_id": "THB_DANRE",
            "refseq_ac": "NP_571415",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Thyroid hormone receptor beta",
                    "type": "recommended"
                },
                {
                    "name": "Nuclear receptor subfamily 1 group A member 2",
                    "type": "synonym"
                },
                {
                    "name": "TR-beta",
                    "type": "synonym"
                },
                {
                    "name": "TRbeta1",
                    "type": "synonym"
                },
                {
                    "name": "TRb",
                    "type": "synonym"
                },
                {
                    "name": "Thyroid hormone receptor beta-1",
                    "type": "synonym"
                },
                {
                    "name": "nuclear receptor subfamily 1 group A member 2",
                    "type": "synonym"
                },
                {
                    "name": "thyroid hormone receptor beta 2",
                    "type": "synonym"
                },
                {
                    "name": "thyroid hormone receptor beta-1",
                    "type": "synonym"
                },
                {
                    "name": "thyroid hormone receptor beta",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "thrb",
                    "type": "recommended"
                },
                {
                    "name": "NR1A2",
                    "type": "synonym"
                },
                {
                    "name": "TR-beta",
                    "type": "synonym"
                },
                {
                    "name": "TR[b]1",
                    "type": "synonym"
                },
                {
                    "name": "fj24f03",
                    "type": "synonym"
                },
                {
                    "name": "nr1a2",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-264a6.2",
                    "type": "synonym"
                },
                {
                    "name": "thr2",
                    "type": "synonym"
                },
                {
                    "name": "thrb",
                    "type": "synonym"
                },
                {
                    "name": "trb",
                    "type": "synonym"
                },
                {
                    "name": "wu:fj24f03",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9PVE4-1",
            "evidence": [
                {
                    "id": "0111374",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111374"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P37242-1",
            "uniprot_ac": "P37242",
            "uniprot_id": "THB_MOUSE",
            "refseq_ac": "NP_001106888",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Thyroid hormone receptor beta",
                    "type": "recommended"
                },
                {
                    "name": "Nuclear receptor subfamily 1 group A member 2",
                    "type": "synonym"
                },
                {
                    "name": "TR beta",
                    "type": "synonym"
                },
                {
                    "name": "c-erbA-2",
                    "type": "synonym"
                },
                {
                    "name": "c-erbA-beta",
                    "type": "synonym"
                },
                {
                    "name": "nuclear receptor subfamily 1 group A member 2",
                    "type": "synonym"
                },
                {
                    "name": "thyroid hormone receptor beta isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Thrb",
                    "type": "recommended"
                },
                {
                    "name": "Erba2",
                    "type": "synonym"
                },
                {
                    "name": "Nr1a2",
                    "type": "synonym"
                },
                {
                    "name": "T3R[b]",
                    "type": "synonym"
                },
                {
                    "name": "T3Rbeta",
                    "type": "synonym"
                },
                {
                    "name": "Thrb1",
                    "type": "synonym"
                },
                {
                    "name": "Thrb2",
                    "type": "synonym"
                },
                {
                    "name": "Thrb",
                    "type": "synonym"
                },
                {
                    "name": "c-erbAbeta",
                    "type": "synonym"
                }
            ],
            "record_id": "P37242-1",
            "evidence": [
                {
                    "id": "0111374",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111374"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P10828-1",
            "uniprot_ac": "P10828",
            "uniprot_id": "THB_HUMAN",
            "refseq_ac": "NP_000452",
            "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 beta",
                    "type": "recommended"
                },
                {
                    "name": "Nuclear receptor subfamily 1 group A member 2",
                    "type": "synonym"
                },
                {
                    "name": "c-erbA-2",
                    "type": "synonym"
                },
                {
                    "name": "c-erbA-beta",
                    "type": "synonym"
                },
                {
                    "name": "nuclear receptor subfamily 1 group A member 2",
                    "type": "synonym"
                },
                {
                    "name": "oncogene ERBA2",
                    "type": "synonym"
                },
                {
                    "name": "thyroid hormone receptor beta isoform a",
                    "type": "synonym"
                },
                {
                    "name": "thyroid hormone receptor, beta (erythroblastic leukemia viral (v-erb-a) oncogene homolog 2, avian)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "THRB",
                    "type": "recommended"
                },
                {
                    "name": "C-ERBA-2",
                    "type": "synonym"
                },
                {
                    "name": "C-ERBA-BETA",
                    "type": "synonym"
                },
                {
                    "name": "ERBA2",
                    "type": "synonym"
                },
                {
                    "name": "GRTH",
                    "type": "synonym"
                },
                {
                    "name": "NR1A2",
                    "type": "synonym"
                },
                {
                    "name": "PRTH",
                    "type": "synonym"
                },
                {
                    "name": "THR1",
                    "type": "synonym"
                },
                {
                    "name": "THRB1",
                    "type": "synonym"
                },
                {
                    "name": "THRB2",
                    "type": "synonym"
                },
                {
                    "name": "THRB",
                    "type": "synonym"
                },
                {
                    "name": "THRbeta1",
                    "type": "synonym"
                },
                {
                    "name": "THRbeta",
                    "type": "synonym"
                },
                {
                    "name": "TRbeta1",
                    "type": "synonym"
                },
                {
                    "name": "TRbeta",
                    "type": "synonym"
                },
                {
                    "name": "TRb",
                    "type": "synonym"
                },
                {
                    "name": "Thrbeta2",
                    "type": "synonym"
                }
            ],
            "record_id": "P10828-1",
            "evidence": [
                {
                    "id": "145650",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/145650"
                },
                {
                    "id": "0111374",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111374"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P18113-1",
            "uniprot_ac": "P18113",
            "uniprot_id": "THB_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": "Thyroid hormone receptor beta",
                    "type": "recommended"
                },
                {
                    "name": "Nuclear receptor subfamily 1 group A member 2",
                    "type": "synonym"
                },
                {
                    "name": "c-erbA-2",
                    "type": "synonym"
                },
                {
                    "name": "c-erbA-beta",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Thrb",
                    "type": "recommended"
                },
                {
                    "name": "Erba2",
                    "type": "synonym"
                },
                {
                    "name": "Nr1a2",
                    "type": "synonym"
                }
            ],
            "record_id": "P18113-1",
            "evidence": [
                {
                    "id": "0111374",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111374"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111374"
}