Glucocorticoid deficiency 5

Preferred Label : Glucocorticoid deficiency 5;

Symbol : GCCD5;

CISMeF acronym : GCCD5;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the thioredoxin reductase-2 gene (TXNRD2, 606448.0001);

Prefixed ID : #617825;

Details

Origin ID

617825;

UMLS CUI

C4540522;

Genes related to phenotype
- Thioredoxin reductase 2 [OMIM gene]
HPO term(s)
- Abnormal response to ACTH stimulation test [HPO term]
- Autosomal recessive inheritance [HPO term]
- Decreased circulating cortisol level [HPO term]
- Hyperpigmentation of the skin [HPO term]
ORDO concept(s)
- Familial glucocorticoid deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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