congenital hypothyroidism

Findings

No curated finding names congenital hypothyroidism yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

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.

Where it sits

A kind of

• hypothyroidism

Narrower terms (8)

• familial thyroid dyshormonogenesis
• hypothyroidism due to iodide transport defect
• hypothyroidism, congenital, nongoitrous
• idiopathic congenital hypothyroidism
• Kocher-debre-Semelaigne syndrome
• Pendred syndrome
• permanent congenital hypothyroidism
• transient congenital hypothyroidism

Resolves to: congenital hypothyroidism

Also called

congenital iodine deficiency syndrome