congenital nongoitrous hypothyroidism 6
Findings
No curated finding names congenital nongoitrous hypothyroidism 6 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any hypothyroidism, congenital, nongoitrous in which the cause of the disease is a mutation in the THRA gene.
Definition from the Mondo Disease Ontology (MONDO:0013757), read 2026-09-29. CC BY 4.0.
Features
1 feature
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Increased T3/T4 ratioHPOHP:0012559
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.
- THRAHGNC:11796
- Definitive · G2P · Autosomal dominant · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
5 names
Resolves to: congenital nongoitrous hypothyroidism 6
- Also called
- CHNG6hypothyroidism, congenital, nongoitrous caused by mutation in THRAhypothyroidism, congenital, nongoitrous, 6hypothyroidism, congenital, nongoitrous, type 6THRA hypothyroidism, congenital, nongoitrous