Inactivating TSHR Gene Mutation

Preferred Label : Inactivating TSHR Gene Mutation;

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

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

NCI Metathesaurus CUI : CL520426;

Details

Origin ID

C132061;

UMLS CUI

C4330480;

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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