| Metadata | |
|---|---|
| ID | DOID:0111374 |
| Name | selective pituitary thyroid hormone resistance |
| Definition | A hyperthyroidism characterized by mild to moderate hyperthyroidism, impaired pituitary response to thyroid hormone, elevated levels of thyroid hormone, and association with thyrotoxic features that has_material_basis_in heterozygous mutation in the THRB gene on chromosome 3p24.2. https://www.ncbi.nlm.nih.gov/pubmed/6798060, https://www.ncbi.nlm.nih.gov/pubmed/8040303 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
familial hyperthyroidism due to inappropriate thyrotropin secretion [EXACT] pituitary resistance to thyroid hormone [EXACT] PRTH [EXACT] selective pituitary resistance to thyroid hormone [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a hyperthyroidism |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |