Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/617825 http://purl.bioontology.org/ontology/OMIM/617825
Preferred Name	GLUCOCORTICOID DEFICIENCY 5
Synonyms	GCCD5
Type	http://www.w3.org/2002/07/owl#Class

altLabel	GCCD5
prefLabel	GLUCOCORTICOID DEFICIENCY 5
Gene Symbol	TRXR2 SELZ GCCD5 TXNRD2
Scope Statement	Based on report of 1 large consanguineous Kashmiri family (last curated December 2017) [MISCELLANEOUS] Laboratory abnormalities noted in infancy may normalize transiently in childhood [MISCELLANEOUS] Caused by mutation in the thioredoxin reductase-2 gene (TXNRD2, 606448.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU044696 http://purl.bioontology.org/ontology/OMIM/MTHU060009 http://purl.bioontology.org/ontology/OMIM/MTHU060010 http://purl.bioontology.org/ontology/OMIM/MTHU003355
tui	T047
Gene Locus	22q11.2
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	617825
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C4540522
OMIM Entry Type	3
OMIM MimType Value	pound

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