has material basis in germline mutation in NKX2-1 syndromic disease hereditary disease endocrine system disorder NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction https://github.com/monarch-initiative/mondo/issues/6296 https://github.com/monarch-initiative/mondo/issues/6651 https://github.com/monarch-initiative/mondo/issues/6878 https://github.com/monarch-initiative/mondo/issues/7657 The NKX2-1 gene is located on chromosome 14 at 14q13.3 and encodes the NK2 homeobox 1 protein, a transcription factor that binds and activates thyroid specific genes. NKX2-1 was first reported in relation to autosomal dominant NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction in 1998. GARD:0027999 MONDO:0100520