Version: 8.0.0
Date: Tue Jan 28 2025
congenital nongoitrous hypothyroidism 7
DOID:0111836
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

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.
Synonyms
  • central hypothyroidism due to TRH receptor deficiency
  • CHNG7
Cross References
Parent Terms
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None
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