has material basis in germline mutation in disease has basis in disruption of disease caused by disruption of TSHR nuclear receptor activity hypothyroidism, congenital, nongoitrous hypothyroidism due to TSH receptor mutations https://www.malacards.org/card/hypothyroidism_congenital_nongoitrous_1 GARD:0016793 hypothyroidism, congenital, nongoitrous, 1 Hypothyroidism due to thyroid-stimulating hormone (TSH) receptor mutations is a type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth due to thyroid resistance to TSH. DOID:0070126 Orphanet:90673 UMLS:C3493776 CHNG1 hypothyroidism, congenital, due to TSH resistance thyrotropin resistance thyroid-stimulating hormone, resistance to MEDGEN:487729 hypothyroidism, Nonautoimmune MONDO:0010142 OMIM:275200 TSH resistance congenital nongoitrous hypothyroidism 1 hypothyroidism due to unresponsiveness to thyrotropin hypothyroidism, congenital, nongoitrous, type 1