TXNRD2-Associated Familial Glucocorticoid Deficiency

Preferred Label : TXNRD2-Associated Familial Glucocorticoid Deficiency;

NCIt synonyms : TXNRD2-Associated FGD;

NCIt definition : Familial glucocorticoid deficiency caused by mutation(s) in the TXNRD2 gene encoding thioredoxin reductase 2.;

Alternative definition : NICHD: Familial glucocorticoid deficiency caused by mutation(s) in the TXNRD2 gene, encoding thioredoxin reductase 2.;

NCI Metathesaurus CUI : CL513364;

Details

Origin ID

C131059;

UMLS CUI

C4331393;

Semantic type(s)
- Finding [UMLS semantic type]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
related_to_genetic_biomarker
- TXNRD2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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