OntologiesdoidclassesDOID:0070125   
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congenital nongoitrous hypothyroidism 5
http://purl.obolibrary.org/obo/DOID_0070125

A congenital hypothyroidism that has_material_basis_in heterozygous mutation in the NKX2-5 gene on chromosome 5q35.

Exact Synonyms
CHNG5