Term Name: | congenital nongoitrous hypothyroidism 4 |
---|---|
Synonyms: | CHNG4, isolated thyrotropin deficiency |
Definition: | A congenital hypothyroidism characterized by a permanent thyroid deficiency present at birth and resulting from deficiency in TSH synthesis that has_material_basis_in homozygous mutation in the TSHB gene on chromosome 1p13. |
Ontology: | Human Disease [DOID:0070123] ( DOID:0070123 ) |