Visualize Submit Comment

Metadata
ID	DOID:0070126
Name	congenital nongoitrous hypothyroidism 1
Definition	A congenital hypothyroidism that has_material_basis_in mutation in the TSHR gene on chromosome 14q31. https://www.ncbi.nlm.nih.gov/pubmed/8954020
Xrefs	ICD10CM:E03.1 MIM:275200
Synonyms	CHNG1 [EXACT] TSH resistance [EXACT]
Parent Relationships	is_a autosomal recessive disease is_a congenital hypothyroidism