congenital nongoitrous hypothyroidism 3
MONDO:0012360Mondo
Findings
No curated finding names congenital nongoitrous hypothyroidism 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A congenital hypothyroidism characterized by autosomal dominant inheritance of resistance to thyrotropin that has material basis in variation in the chromosome region 15q25.3-q26.1.
Definition from the Mondo Disease Ontology (MONDO:0012360), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Adult onset · Infantile onset
HPO, annotations 2026-09-02
Features
4 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 thyroglobulin concentrationHPOHP:0025484
- 13 of 13 reported patients
- Elevated circulating thyroid-stimulating hormone concentrationHPOHP:0002925
- 95 of 95 reported patients
- HypothyroidismHPOHP:0000821
- 13 of 13 reported patients · Congenital onset
- Multinodular goiterHPOHP:0005987
- 3 of 13 reported patients
Where it sits
Other names
2 names
Resolves to: congenital nongoitrous hypothyroidism 3
- Also called
- CHNG3hypothyroidism, congenital, nongoitrous, 3