| Disease ID | Source | Name | Description |
| 274300 | OMIM | Thyroid hormone resistance, generalized, autosomal recessive (GRTHR) | An autosomal recessive disorder characterized by goiter, clinical euthyroidism, end-organ unresponsiveness to thyroid hormone, abnormal growth and bone maturation, and deafness. Patients also have high levels of circulating thyroid hormones, with elevated thyroid stimulating hormone. The disease is caused by variants affecting the gene represented in this entry. |
| 145650 | OMIM | Selective pituitary thyroid hormone resistance (PRTH) | Variant form of thyroid hormone resistance and is characterized by clinical hyperthyroidism, with elevated free thyroid hormones, but inappropriately normal serum TSH. Unlike GRTH, where the syndrome usually segregates with a dominant allele, the mode of inheritance in PRTH has not been established. The disease is caused by variants affecting the gene represented in this entry. |
| 188570 | OMIM | Thyroid hormone resistance, generalized, autosomal dominant (GRTHD) | An autosomal dominant disease characterized by high levels of circulating thyroid hormones (T3-T4), goiter, abnormal mental functions, increased susceptibility to infections, abnormal growth and bone maturation, tachycardia and deafness. Affected individuals may also have attention deficit-hyperactivity disorders ADHD) and language difficulties. Patients have normal or slightly elevated thyroid stimulating hormone (TSH). The disease is caused by variants affecting the gene represented in this entry. |