thyroid dyshormonogenesis 5
MONDO:0010137Mondo
Findings
No curated finding names thyroid dyshormonogenesis 5 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the DUOXA2 gene.
Definition from the Mondo Disease Ontology (MONDO:0010137), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- DUOXA2HGNC:32698
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Semidominant · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
- A kind of
Other names
6 names
Resolves to: thyroid dyshormonogenesis 5
- Also called
- DUOXA2 familial thyroid dyshormonogenesisfamilial thyroid dyshormonogenesis caused by mutation in DUOXA2hypothyroidism, congenital, due to dyshormonogenesis, 5TDH5thyroid dyshormonogenesis type 5thyroid hormonogenesis, genetic defect in, 5