Visualize Submit Comment

Metadata
ID	DOID:0070125
Name	congenital nongoitrous hypothyroidism 5
Definition	A congenital hypothyroidism that has_material_basis_in heterozygous mutation in the NKX2-5 gene on chromosome 5q35. https://www.ncbi.nlm.nih.gov/pubmed/16418214
Xrefs	ICD10CM:E03.1 MIM:225250 ORDO:90673
Subsets	DO_rare_slim
Synonyms	CHNG5 [EXACT]
Parent Relationships	is_a autosomal dominant disease is_a congenital hypothyroidism