Click here to close Hello! We notice that you are using Internet Explorer, which is not supported by Xenbase and may cause the site to display incorrectly. We suggest using a current version of Chrome, FireFox, or Safari.
Summary Literature (0)
DOID:0090141 - cortisone reductase deficiency 1


Disease Ontology Definition:A cortisone reductase deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the H6PD gene on chromosome 1p36.

Synonyms: CORTRD1

Xenbase Genes : hsd11b1, h6pd

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0011503 - cortisone reductase deficiency 1

OMIM:
OMIM:604931 - CORTISONE REDUCTASE DEFICIENCY 1; CORTRD1

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): cortisone reductase deficiency (is_a)