eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | congenital hypothyroidism |
| Symptom | C1563716|thyroid dysgenesis |
| Sentences | 2 |
| PubMedID- 20484477 | Context: homozygous loss-of-function mutations in forkhead box e1/thyroid transcription factor 2 (foxe1/ttf-2) cause syndromic congenital hypothyroidism, with thyroid dysgenesis, cleft palate, spiky hair, and variable choanal atresia and bifid epiglottis in three cases reported hitherto. |
| PubMedID- 25538886 | Context: ectopic thyroid gland (etg) is known to be the most common form of thyroid dysgenesis in children with permanent congenital hypothyroidism (ch). |
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