Term Name: | congenital nongoitrous hypothyroidism 5 |
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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 ) |