eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | congenital hypothyroidism |
| Comorbidity | C0020676|hypothyroidism |
| Sentences | 4 |
| PubMedID- 20537182 | • severity of hypothyroidism - infants with congenital hypothyroidism have varying degrees of thyroid hormone deficiency; the severity of hypothyroidism likely is related to the underlying etiology (e.g, agenesis vs. hypoplasia/ectopia vs. dyshormonogenesis). |
| PubMedID- 21876836 | Thyroid hormone plays a crucial role in brain development, which is illustrated by the dramatic neurologic impairment observed in untreated neonatal hypothyroidism, a condition leading to cretinism [2–4]. |
| PubMedID- 19438905 | Molecular analysis of congenital goitres with hypothyroidism caused by defective thyroglobulin synthesis. |
| PubMedID- 20447071 | congenital goitre with hypothyroidism caused by a novel compound heterozygous mutations in the thyroglobulin gene. |
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