Term Name: congenital nongoitrous hypothyroidism 5
Synonyms: CHNG5
Definition: A congenital hypothyroidism that has_material_basis_in heterozygous mutation in the NKX2-5 gene on chromosome 5q35.
Ontology: Human Disease [DOID:0070125]   ( DOID:0070125 )

Relationships
is a type of: autosomal dominant disease congenital hypothyroidism