Search on: TURNER SYNDROME 
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Descriptor English:   Turner Syndrome 
Descriptor Spanish:   Síndrome de Turner 
Descriptor Portuguese:   Síndrome de Turner 
Synonyms English:   Monosomy X
Status Bonnevie-Ullrich
Turner's Syndrome
Ullrich-Turner Syndrome
Bonnevie Ullrich Syndrome
Status Bonnevie Ullrich
Syndrome, Ullrich-Turner
Turners Syndrome
Ullrich Turner Syndrome
XO Gonadal Dysgenesis
Bonnevie-Ullrich Syndrome
Gonadal Dysgenesis, 45,X
Gonadal Dysgenesis, XO  
Tree Number:   C12.706.316.309.872
C12.706.316.795.750
C13.351.875.253.309.872
C13.351.875.253.795.750
C14.240.400.980
C14.280.400.980
C16.131.240.400.970
C16.131.260.830.835.750
C16.131.939.316.309.872
C16.131.939.316.795.750
C16.320.180.830.835.750
C19.391.119.309.872
C19.391.119.795.750
Definition English:   A syndrome of defective gonadal development in phenotypic females associated with the karyotype 45,X (or 45,XO). Patients generally are of short stature with undifferentiated GONADS (streak gonads), SEXUAL INFANTILISM, HYPOGONADISM, webbing of the neck, cubitus valgus, elevated GONADOTROPINS, decreased ESTRADIOL level in blood, and CONGENITAL HEART DEFECTS. NOONAN SYNDROME (also called Pseudo-Turner Syndrome and Male Turner Syndrome) resembles this disorder; however, it occurs in males and females with a normal karyotype and is inherited as an autosomal dominant. 
Indexing Annotation English:   in females; TURNER SYNDROME, MALE see NOONAN SYNDROME is also available
See Related English:   Noonan Syndrome
 
History Note English:   2002(1963); for BONNEVIE-ULLRICH SYNDROME use SEX CHROMOSOME ABNORMALITIES 1963-2001 
Allowable Qualifiers English:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications DI diagnosis
DG diagnostic imaging DH diet therapy
DT drug therapy EC economics
EM embryology EN enzymology
EP epidemiology EH ethnology
ET etiology GE genetics
HI history IM immunology
ME metabolism MI microbiology
MO mortality NU nursing
PS parasitology PA pathology
PP physiopathology PC prevention & control
PX psychology RT radiotherapy
RH rehabilitation SU surgery
TH therapy UR urine
VE veterinary VI virology
Record Number:   14823 
Unique Identifier:   D014424 

Occurrence in VHL:
 
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