OBO ID: DOID:0111836
Term Name: congenital nongoitrous hypothyroidism 7 Search Ontology:
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. https://www.ncbi.nlm.nih.gov/pubmed/9141550
References:
Ontology: Human Disease   ( DOID:0111836 )
OTHER congenital nongoitrous hypothyroidism 7 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TRHR Hypothyroidism, congenital, nongoitrous, 7 618573
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None