Term Name: | selective pituitary thyroid hormone resistance |
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Synonyms: | familial hyperthyroidism due to inappropriate thyrotropin secretion, pituitary resistance to thyroid hormone, PRTH, selective pituitary resistance to thyroid hormone |
Definition: | 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. |
Ontology: | Human Disease [DOID:0111374] ( DOID:0111374 ) |