thyroid hormone metabolism, abnormal, 2
MONDO:0030839Mondo
Findings
No curated finding names thyroid hormone metabolism, abnormal, 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
3 features
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.
- Elevated circulating reverse T3 concentrationHPOHP:0034288
- 8 of 8 reported patients
- Elevated circulating rT3/T3 ratioHPOHP:0034289
- 8 of 8 reported patients
- HypercholesterolemiaHPOHP:0003124
- 1 of 5 reported patients
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.
- DIO1HGNC:2883
- Moderate · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
1 name
Resolves to: thyroid hormone metabolism, abnormal, 2
- Also called
- THMA2