Term Name: | congenital nongoitrous hypothyroidism 8 |
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Synonyms: | CHNG8 |
Definition: | A congenital hypothyroidism characterized by relatively mild central hypothyroidism that has_material_basis_in heterozygous or hemizygous mutation in the TBL1X gene on chromosome Xp22.3-p22.2. |
Ontology: | Human Disease [DOID:0111837] ( DOID:0111837 ) |