Term Name: | congenital nongoitrous hypothyroidism 2 |
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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 ) |