thyroid dyshormonogenesis 6

Summary
Synonym
  • TDH6
  • genetic defect in thyroid hormonogenesis 6
Definition
A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in DUOX2 on chromosome 15q21.1.
Super Class
autosomal recessive disease familial thyroid dyshormonogenesis
Disease Ontology
DOID:0112189
Mondo Disease Ontology
MeSH
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
50506 DUOX2 dual oxidase 2
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q9NRD8 Dual oxidase 2

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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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