thyroid dyshormonogenesis 5

Summary
Synonym
  • TDH5
  • genetic defect in thyroid hormonogenesis 5
Definition
A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in DUOXA2 on chromosome 15q21.1.
Super Class
autosomal recessive disease familial thyroid dyshormonogenesis
Disease Ontology
DOID:0112184
Mondo Disease Ontology
MeSH
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
405753 DUOXA2 dual oxidase maturation factor 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
66811 Duoxa2 dual oxidase maturation factor 2
Displaying 1 entry
Gene ID Gene Symbol Description Source Organism
780018 duoxa1 dual oxidase maturation factor 1 Xenopus tropicalis (tropical clawed frog)
Displaying 1 entry
Gene ID Gene Symbol Description Source
182313 doxa-1 Dual oxidase maturation factor 1

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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