familial gestational hyperthyroidism

Term ID

DOID:0081102

Synonyms

Definition

A hyperthyroidism that is characterized by promiscuous stimulation of the thyrotropin receptor by the excess chorionic gonadotropin and that has_material_basis_in heterozygous mutation in the gene encoding the thyroid-stimulating hormone receptor (TSHR) on chromosome 14q31. https://pubmed.ncbi.nlm.nih.gov/9267761/

References

• OMIM:603373
• ORDO:99819

Ontology

Human Disease   ( DOID:0081102 )