Term Name: | congenital nongoitrous hypothyroidism 3 |
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Synonyms: | CHNG3 |
Definition: | A congenital hypothyroidism characterized by autosomal dominant inheritance of resistance to thyrotropin that has_material_basis_in heterozygous mutation in a thyroid-specific TTTG(4) intergenic noncoding short tandem repeat (STR) on chromosome 15q25.1. |
Ontology: | Human Disease [DOID:0070127] ( DOID:0070127 ) |