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Term:
46,XY sex reversal
(DOID:14448)
Annotations:
Rat: (19)
Mouse: (24)
Human: (34)
Chinchilla: (17)
Bonobo: (19)
Dog: (17)
Squirrel: (17)
Pig: (18)
Naked Mole-rat: (17)
Green Monkey: (19)
Parent Terms
Term With Siblings
Child Terms
46, XY Disorders of Sex Development
+
gonadal dysgenesis
+
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
+
46, XY Female
46,Xy Gonadal Dysgenesis, Complete, Sry-Related
46,XY Partial Gonadal Dysgenesis, with Minifascicular Neuropathy
46,XY sex reversal 1
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
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
+
Meacham Winn Culler Syndrome
Myoectodermal Gonadal Dysgenesis Syndrome
Spastic Paraplegia, Optic Atrophy, Microcephaly, and XY Sex Reversal
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:
MIM:PS400044
;
NCI:C120198
;
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"