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Details for phenotype: Graves-Basedow disease

EndoNet ID: ENP00490

Name

Graves-Basedow disease

General information

This phenotype is pathologic
  • Graves' disease is the most common aetiology in patients with severe hyperthyroidism. [1]

Links to other resources

GO
OMIM 275000
Medline Plus 000358
MeSH term D006111

Phenotype triggers

  • more activity (high ligand concentration, overexpression) of thyroid stimulating hormone receptor
    in thyroid_gland
    • Graves disease is an autoimmune thyroid disease characterized by the presence of antibodies against the thyrotropin receptor (TSHR), which result in constitutive activation of the receptor and increased levels of thyroid hormone, and stimulate the thyroid to cause hyperthyroidism and/or goiter. [2]
Reference