Turner syndrome

GPTKB entity

Statements (63)
Predicate Object
gptkbp:instanceOf genetic disorder
gptkbp:affects fertility
puberty
females
sexual development
gptkbp:alsoKnownAs 45,X syndrome
Monosomy X
gptkbp:causedBy partial or complete absence of one X chromosome
gptkbp:complication gptkb:bone
gptkb:type_2_diabetes
hearing impairment
stroke
obesity
hypertension
thyroid disorders
coronary artery disease
infertility
scoliosis
hearing loss
strabismus
dyslipidemia
ptosis
celiac disease
bicuspid aortic valve
recurrent otitis media
keloids
aortic coarctation
horseshoe kidney
hypertrophic scars
liver function abnormalities
pigmented nevi
gptkbp:diagnosedBy karyotype analysis
gptkbp:firstDescribed gptkb:Henry_Turner
1938
https://www.w3.org/2000/01/rdf-schema#label Turner syndrome
gptkbp:ICD-10_code Q96
gptkbp:inheritance usually not inherited
gptkbp:karyotype 45,X
gptkbp:MeSH_ID D014435
gptkbp:notableFeature normal intelligence
possible learning difficulties
gptkbp:OMIM 163950
gptkbp:prevalence 1 in 2,000 to 1 in 5,000 live female births
gptkbp:riskFactor gptkb:bone
gptkb:diabetes_mellitus
autoimmune disorders
hypertension
congenital heart disease
gptkbp:symptom lymphedema
short stature
infertility
hearing loss
cardiac abnormalities
webbed neck
kidney abnormalities
gonadal dysgenesis
cubitus valgus
low hairline
gptkbp:treatment growth hormone therapy
estrogen replacement therapy
gptkbp:bfsParent gptkb:Saizen
gptkb:Meiosis
gptkbp:bfsLayer 6