Term Name: congenital nongoitrous hypothyroidism 2
Synonyms: CHNG2, congenital hypothyroidism due to thyroid dysgenesis or hypoplasia
Definition: A congenital hypothyroidism that has_material_basis_in heterozygous mutation in the PAX8 gene on chromosome 2q13.
Ontology: Human Disease [DOID:0070124]   ( DOID:0070124 )

Relationships
is a type of: autosomal dominant disease congenital hypothyroidism