congenital nongoitrous hypothyroidism 6

Term ID

DOID:0070128

Synonyms

• CHNG6

Definition

A congenital hypothyroidism that has_material_basis_in heterozygous mutation in the THRA gene on chromosome 17q21.1. https://www.ncbi.nlm.nih.gov/pubmed/22168587

References

• ICD10CM:E03.1
• OMIM:614450

Ontology

Human Disease   ( DOID:0070128 )