Metadata | |
---|---|
ID | DOID:0111836 |
Name | congenital nongoitrous hypothyroidism 7 |
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. https://www.ncbi.nlm.nih.gov/pubmed/9141550 |
Xrefs | |
Subsets |
DO_rare_slim |
Synonyms |
central hypothyroidism due to TRH receptor deficiency [EXACT] CHNG7 [EXACT] resistance to thyrotropin-releasing hormone syndrome [EXACT] TRH resistance syndrome [EXACT] |
Parent Relationships |