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Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
17-beta hydroxysteroid dehydrogenase 3 deficiency +   
46 XX gonadal dysgenesis +   
46,XX sex reversal +   
46,XY sex reversal +   
A gonadal dysgenesis that is characterized by a normal 46,XY karyotype along with a progressive loss of germ cells on the developing gonads of an embryo. (DO)
46,Xy True Hermaphroditism, Sry-Related  
androgen insensitivity syndrome +   
chondrodysplasia-pseudohermaphroditism syndrome  
Denys-Drash syndrome  
dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome  
Frasier syndrome  
Immunodeficiency, Gonadal Dysgenesis, and Pulmonary Fibrosis 
Kallmann syndrome +   
Kennerknecht Sorgo Oberhoffer Syndrome 
Leydig cell hypoplasia +   
Lipoid Congenital Adrenal Hyperplasia  
Male Pseudohermaphroditism due to Defective LH Molecule 
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type 
mixed gonadal dysgenesis +  
Perrault syndrome +   
persistent Mullerian duct syndrome  
Pseudovaginal Perineoscrotal Hypospadias  
Sexual Infantilism  
Testicular Anomalies with or without Congenital Heart Disease  
testicular dysgenesis syndrome 
Turner syndrome +   
Urioste Martinez-Frias Syndrome 
WAGR syndrome +   

Synonyms
Exact Synonyms: 46 XY gonadal dysgenesis ;   46, XY Gonadal Sex Reversal ;   46,XY Complete Gonadal Dysgenesis ;   46,XY DSD/46,XY CGD ;   Pure Gonadal Dysgenesis 46,XY ;   Swyer Syndrome ;   XY pure gonadal dysgenesis
Primary IDs: MESH:D006061
Xrefs: NCI:C120198 ;   OMIM:PS400044 ;   ORDO:242
Definition Sources: http://en.wikipedia.org/wiki/XY_gonadal_dysgenesis "DO" "DO", https://ghr.nlm.nih.gov/condition/swyer-syndrome#synonyms "DO" "DO"

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