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Metadata
ID	DOID:0070123
Name	congenital nongoitrous hypothyroidism 4
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. https://www.ncbi.nlm.nih.gov/pubmed/2792087
Xrefs	ICD10CM:E03.1 MIM:275100
Synonyms	CHNG4 [EXACT] isolated thyrotropin deficiency [EXACT]
Parent Relationships	is_a autosomal recessive disease is_a congenital hypothyroidism