Statements (68)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb: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 gptkb:strabismus hearing impairment stroke obesity hypertension thyroid disorders coronary artery disease infertility scoliosis hearing loss 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 |
| 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 gptkb:congenital_heart_disease autoimmune disorders hypertension |
| 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:Genotropin
gptkb:Humatrope gptkb:Norditropin gptkb:Nutropin gptkb:Omnitrope gptkb:Saizen gptkb:Valtropin |
| gptkbp:bfsLayer |
7
|
| https://www.w3.org/2000/01/rdf-schema#label |
Turner syndrome
|