Term Name: | congenital nongoitrous hypothyroidism 7 |
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Synonyms: | central hypothyroidism due to TRH receptor deficiency, CHNG7, resistance to thyrotropin-releasing hormone syndrome, TRH resistance syndrome |
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. |
Ontology: | Human Disease [DOID:0111836] ( DOID:0111836 ) |