Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
46, XY Female 
46,Xy Gonadal Dysgenesis, Complete, Sry-Related 
46,XY Partial Gonadal Dysgenesis, with Minifascicular Neuropathy  
46,XY sex reversal 1  
A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in hemizygous mutation in SRY on chromosome Yp11.2. (DO)
46,XY sex reversal 10  
46,XY sex reversal 2  
46,XY sex reversal 3  
46,XY sex reversal 4  
46,XY sex reversal 5  
46,XY sex reversal 6  
46,XY sex reversal 7  
46,XY sex reversal 8  
46,XY sex reversal 9  
46,Xy True Hermaphroditism, Sry-Related  
Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations 
Alopecia Universalis Congenita, XY Gonadal Dysgenesis, and Laryngomalacia 
Anorchia  
congenital adrenal insufficiency  
Genito Palato Cardiac Syndrome 
gonadoblastoma +  
Hairy Ears, Y-Linked 
Hodgkin Disease, Y-Linked Pseudoautosomal 
Meacham Winn Culler Syndrome  
Myoectodermal Gonadal Dysgenesis Syndrome  
retinitis pigmentosa Y-linked 
Spastic Paraplegia, Optic Atrophy, Microcephaly, and XY Sex Reversal 
Y-linked deafness +   
Y-linked spermatogenic failure 1 
Y-linked spermatogenic failure 2  

Synonyms
Exact Synonyms: 46,XY SEX REVERSAL, SRY-RELATED ;   SRXY1
Narrow Synonyms: 46,XY GONADAL DYSGENESIS, COMPLETE, SRY-46,XY TRUE HERMAPHRODITISM, SRY-RELATED ;   SEX-REVERSING LOCUS ON X ;   SRVX ;   TDFX ;   X-chromosomal testis-determining factor
Primary IDs: MIM:400044
Xrefs: NCI:C128188
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/1956279 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/2247151 "DO" "DO"

paths to the root