thyroid dyshormonogenesis 1
MONDO:0020716Mondo
Findings
No curated finding names thyroid dyshormonogenesis 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
- SLC5A5HGNC:11040
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Ambry Genetics · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
6 names
Resolves to: thyroid dyshormonogenesis 1
- Also called
- familial thyroid dyshormonogenesis 1hypothyroidism, congenital, due to dyshormonogenesis, 1iodine accumulation, transport, or trapping defectTDH1thyroid dyshormonogenesis type 1thyroid hormonogenesis, genetic defect in, 1