{
    "disease_id": "DOID:0111374",
    "recommended_name": {
        "id": "DOID:0111374",
        "resource": "Disease Ontology",
        "url": "http://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 THRB on chromosome 3p24.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111374",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111374",
            "name": "PRTH",
            "description": ""
        },
        {
            "id": "DOID:0111374",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111374",
            "name": "pituitary resistance to thyroid hormone",
            "description": ""
        },
        {
            "id": "DOID:0111374",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111374",
            "name": "selective pituitary resistance to thyroid hormone",
            "description": ""
        },
        {
            "id": "DOID:0111374",
            "resource": "Disease Ontology",
            "url": "http://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; PRTH",
            "description": ""
        },
        {
            "id": "MONDO:0007784",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007784",
            "name": "thyroid hormone resistance, selective pituitary",
            "description": ""
        },
        {
            "id": "MONDO:0007784",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007784",
            "name": "pituitary resistance to thyroid hormone",
            "description": ""
        },
        {
            "id": "MONDO:0007784",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007784",
            "name": "hyperthyroidism, familial, due to inappropriate thyrotropin secretion",
            "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"
        }
    ]
}
