Term Name: | congenital nongoitrous hypothyroidism 9 |
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Synonyms: | CHNG9 |
Definition: | A congenital hypothyroidism characterized by a small thyroid gland with low free T4 levels and inappropriately normal levels of thyroid-stimulating hormone that has_material_basis_in hemizygous mutation in the IRS4 gene on chromosome Xq22.3. |
Ontology: | Human Disease [DOID:0111835] ( DOID:0111835 ) |