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 )

Relationships
is a type of: autosomal recessive disease congenital hypothyroidism