congenital nongoitrous hypothyroidism 7 (DOID:0111836)
Alliance: disease page
Synonyms: central hypothyroidism due to TRH receptor deficiency; CHNG7; resistance to thyrotropin-releasing hormone syndrome; TRH resistance syndrome
Alt IDs: OMIM:618573, ORDO:99832
Definition: A congenital hypothyroidism characterized by normal-to-low T4 and normal-to-high thyrotropin levels, with reduced or absent pituitary responsiveness to thyrotropin-releasing hormone that has_material_basis_in homozygous or compound heterozygous mutation in the TRHR gene on chromosome 8q23.1.