selective pituitary thyroid hormone resistance

Summary

DOID:0111374 - selective pituitary thyroid hormone resistance

Disease Ontology 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.

Synonyms: familial hyperthyroidism due to inappropriate thyrotropin secretion, pituitary resistance to thyroid hormone, PRTH, selective pituitary resistance to thyroid hormone

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: thrb

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal dominant disease (is_a), hyperthyroidism (is_a)