TSHR Gene Mutation

Preferred Label : TSHR Gene Mutation;

NCIt synonyms : Thyroid Simulating Hormone Receptor Gene Mutation;

NCIt related terms : Thyrotropin Receptor Defect; TSH Receptor Defect; Thyroid Stimulating Hormone Receptor Gene Mutation;

NCIt definition : A change in the nucleotide sequence of the TSHR gene.;

Alternative definition : NICHD: Mutation(s) in the TSHR gene, resulting in altered function of the thyroid stimulating hormone receptor.;

NCI Metathesaurus CUI : CL513363;

Details

Origin ID

C131021;

UMLS CUI

C4331378;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
molecular_abnormality_involves_gene
- TSHR Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients