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total iodide organification defect; genetic defect in thyroid hormonogenesis 2A; thyroid hormone organification defect 2
Epidemiology: common
Pathology:
- congenital hypothyroidism
- iodide taken up by the thyroid gland cannot be oxidized & bound to protein
Genetics:
- associated with defects in thyroid peroxidase
General
enzyme deficiency
Database Correlations
OMIM 274500
References
OMIM :accession 274500