Terminology Service for NFDI4Health
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TSHR Gene Mutation

Go to external page http://purl.obolibrary.org/obo/NCIT_C131021

A change in the nucleotide sequence of the TSHR gene. [ ]

Term info

Label

TSHR Gene Mutation

Synonyms
  • TSH Receptor Defect
  • TSHR Gene Mutation
  • Thyroid Simulating Hormone Receptor Gene Mutation
  • Thyroid Stimulating Hormone Receptor Gene Mutation
  • Thyrotropin Receptor Defect
Subsets

NCIT_C90259, NCIT_C118467

ALT DEFINITION

Mutation(s) in the TSHR gene, resulting in altered function of the thyroid stimulating hormone receptor.

Has NICHD Parent

http://purl.obolibrary.org/obo/NCIT_C3101

NCI META CUI

CL513363

NICHD Hierarchy Term

Thyroid Stimulating Hormone Receptor Gene Mutation

Preferred Name

TSHR Gene Mutation

Semantic Type

Cell or Molecular Dysfunction

code

C131021