congenital nongoitrous hypothyroidism 6

Summary
Synonym
  • CHNG6
Definition
A congenital hypothyroidism that has_material_basis_in heterozygous mutation in the THRA gene on chromosome 17q21.1.
Super Class
autosomal dominant disease congenital hypothyroidism
Disease Ontology
DOID:0070128
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
7067 THRA thyroid hormone receptor alpha

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024