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DO Term : selective pituitary thyroid hormone resistance [DOID:0111374] Disease Ontology

Namespace  disease_ontology Obsolete  false
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:
  • familial hyperthyroidism due to inappropriate thyrotropin secretion,
  • selective pituitary resistance to thyroid hormone,
  • ORDO:165994,
  • MESH:C564154,
  • PRTH,
  • OMIM:145650,
  • pituitary resistance to thyroid hormone,
  • 145650,
  • UMLS_CUI:C1840364
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