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familial hyperthyroidism due to mutations in TSH receptor

Disease Summary
Associated Targets (1)
Tclin

1


GARD Rare
Mondo Description Familial non-autoimmune autosomal dominant hyperthyroidism (FNAH) is a rare hyperthyroidism characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history.
Uniprot Description A condition characterized by abnormally high levels of serum thyroid hormones, thyroid hyperplasia, goiter and lack of anti-thyroid antibodies. Typical features of Graves disease such as exophthalmia, myxedema, antibodies anti-TSH receptor and lymphocytic infiltration of the thyroid gland are absent.
Mondo Term and Equivalent IDs
MONDO:0012203:  familial hyperthyroidism due to mutations in TSH receptor
GARD:0002858: 
MESH:C563786: 
Orphanet:424: 
UMLS:C1836706: