Term Name: congenital nongoitrous hypothyroidism 7
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 )

Relationships
is a type of: autosomal recessive disease congenital hypothyroidism