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Ontology Browser

Term:
cortisone reductase deficiency (DOID:0090139)
Annotations: Rat: (2) Mouse: (2) Human: (3) Chinchilla: (2) Bonobo: (2) Dog: (2) Squirrel: (2) Pig: (2)
Parent Terms Term With Siblings Child Terms
17-beta hydroxysteroid dehydrogenase 3 deficiency +   
46 XX gonadal dysgenesis +   
46,XX sex reversal +   
Acanthosis Nigricans Muscle Cramps Acral Enlargement 
Antley-Bixler syndrome +   
apparent mineralocorticoid excess syndrome  
aromatase excess syndrome  
Barber-Say syndrome  
congenital adrenal hyperplasia +   
congenital bile acid synthesis defect +   
cortisone reductase deficiency +   
An endocrine system disease characterized by failure to regenerate the active glucocorticoid cortisol from cortisone resulting in adrenal hyperandrogenism. (DO)
cytochrome P450 oxidoreductase deficiency  
Familial Hypercholanemia +   
Female Pseudohermaphroditism with Skeletal Anomalies 
glucocorticoid deficiency 1  
hyperandrogenism +   
Lathosterolosis  
Lyngstadaas Syndrome 
Mayer-Rokitansky-Kuster-Hauser syndrome +   
MEND syndrome  
Michels Caskey Syndrome 
Pseudovaginal Perineoscrotal Hypospadias  
Smith-Lemli-Opitz syndrome +   
spondyloepimetaphyseal dysplasia, Genevieve-type  
Tel Hashomer Camptodactyly Syndrome 
Wiedemann Oldigs Oppermann Syndrome 
X-linked ichthyosis +   

Synonyms
Exact Synonyms: 11-beta-hydroxysteroid dehydrogenase, type i, deficiency of ;   CORTRD
Primary IDs: MESH:C536447
Alternate IDs: RDO:0002041
Xrefs: GARD:9882 ;   OMIM:PS604931
Definition Sources: https://en.wikipedia.org/wiki/Cortisone_reductase_deficiency "DO", https://www.ncbi.nlm.nih.gov/pubmed/22476103 "DO"

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