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HSD11B2

hydroxysteroid 11-beta dehydrogenase 2

HCNC Approved Symbol
HSD11B2 (HGNC:5209)
Genomic Coordinates
16:67,429,801 - 67,437,553 (16q22.1)
Synonyms
SDR9C3
Disease Associations
This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

2Patients

In total, 2 patients were diagnosed with a variant in the HSD11B2 gene.

Frequently observed phenotypes

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

Failure to thrive
 1 (50.0%)
Hypertension
 1 (50.0%)
Metabolic alkalosis
 1 (50.0%)
Microalbuminuria
 1 (50.0%)
Nephrocalcinosis
 1 (50.0%)
HSD11B2 - Gene browser | 3billion