Activating TSHR Gene Mutation

Preferred Label : Activating TSHR Gene Mutation;

NCIt related terms : Activating Thyroid Stimulating Hormone Receptor Gene Mutation;

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

NCI Metathesaurus CUI : CL521165;

Details

Origin ID

C132060;

UMLS CUI

C4329265;

Molecular abnormality of diseases
- Thyroid Gland Follicular Adenoma with Papillary Architecture [NCIt concept]
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) :

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