Disease Term Disease ID Gene Symbol References
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5 (disorder) C2673630 NKX2-5 16418214
Hypothyroidism, Congenital, Nongoitrous, 4 C0271789 TSHB 20537182, 11549695, 2792087, 22851492, 12930599, 11297590, 27362444
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1 C3493776 TSHR 14725684, 10720030, 27637299, 22876533, 25978107, 22405933, 9185526, 8954020, 11095460, 11442002, 9854118, 20718767, 27525530, 15693879, 9100579, 15531543, 9329388, 27255745, 21677043, 19158199, 21714469, 19506388, 12050212, 21707688, 7528344, 12629076, 20537182
IFIH1
CEP128
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6 C3280817 THRA 22168587, 24969835, 22494134, 25670821, 27144938, 26037512