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Metadata
ID	DOID:0070127
PURL	http://purl.obolibrary.org/obo/DOID_0070127 Copy Copied!
Name	congenital nongoitrous hypothyroidism 3
Definition	A congenital hypothyroidism characterized by autosomal dominant inheritance of resistance to thyrotropin that has_material_basis_in heterozygous mutation in a thyroid-specific TTTG(4) intergenic noncoding short tandem repeat (STR) on chromosome 15q25.1. https://www.ncbi.nlm.nih.gov/pubmed/15870119, https://www.ncbi.nlm.nih.gov/pubmed/8976668
Xrefs	ICD10CM:E03.1 MIM:609893
Synonyms	CHNG3 [EXACT]
Parent Relationships	is_a autosomal dominant disease is_a congenital hypothyroidism