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congenital nongoitrous hypothyroidism 4 (DOID:0070123)
Alliance: disease page
Synonyms: CHNG4; isolated thyrotropin deficiency
Alt IDs: OMIM:275100, ICD10CM:E03.1
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.


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last database update
05/14/2019
MGI 6.14
The Jackson Laboratory