thyroid dyshormonogenesis 2A

Summary
Synonym
  • TDH2A
  • genetic defect in thyroid hormonogenesis 2A
  • iodide peroxidase deficiency
  • thyroid peroxidase deficiency
Definition
A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in TPO on chromosome 2p25.3.
Super Class
autosomal recessive disease familial thyroid dyshormonogenesis
Disease Ontology
DOID:0112186
Mondo Disease Ontology
MeSH
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
7173 TPO thyroid peroxidase
Displaying 1 entry
Gene ID Gene Symbol Description Source
22018 Tpo thyroid peroxidase

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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