Disease-gene associations mined from literature

Human genes for congenital nongoitrous hypothyroidism 4

Congenital nongoitrous hypothyroidism 4 [DOID:0070123]

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.

Synonyms:  congenital nongoitrous hypothyroidism 4,  DOID:0070123,  CHNG4,  isolated thyrotropin deficiency,  isolated thyrotropin deficiencies