Turner syndrome
MONDO:0019499Mondo
Findings
No curated finding names Turner syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Turner syndrome is a chromosomal disorder associated with the complete or partial absence of an X chromosome.
Definition from the Mondo Disease Ontology (MONDO:0019499), read 2026-09-29. CC BY 4.0.
Features
115 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal forearm bone morphologyHPOHP:0040072
- Very frequent (80% to 99% of cases)
- Abnormality of the ovaryHPOHP:0000137
- Very frequent (80% to 99% of cases)
- Aplasia/Hypoplasia of the nipplesHPOHP:0006709
- Very frequent (80% to 99% of cases)
- Cubitus valgusHPOHP:0002967
- Very frequent (80% to 99% of cases)
- Delayed pubertyHPOHP:0000823
- Very frequent (80% to 99% of cases)
- Delayed skeletal maturationHPOHP:0002750
- Very frequent (80% to 99% of cases)
- Enlarged thoraxHPOHP:0100625
- Very frequent (80% to 99% of cases)
- Female infertilityHPOHP:0008222
- Very frequent (80% to 99% of cases)
- Gonadal dysgenesisHPOHP:0000133
- Very frequent (80% to 99% of cases)
- Growth delayHPOHP:0001510
- Very frequent (80% to 99% of cases)
- High urinary gonadotropin levelHPOHP:0003492
- Very frequent (80% to 99% of cases)
- Increased circulating gonadotropin levelHPOHP:0000837
- Very frequent (80% to 99% of cases)
Show the remaining 103
- Increased upper to lower segment ratioHPOHP:0012774
- Very frequent (80% to 99% of cases)
- Intrauterine growth retardationHPOHP:0001511
- Very frequent (80% to 99% of cases)
- OsteopeniaHPOHP:0000938
- Very frequent (80% to 99% of cases)
- OsteoporosisHPOHP:0000939
- Very frequent (80% to 99% of cases)
- Postnatal growth retardationHPOHP:0008897
- Very frequent (80% to 99% of cases)
- Premature ovarian insufficiencyHPOHP:0008209
Where it sits
Other names
6 names
Resolves to: Turner syndrome
- Also called
- 45,X gonadal dysgenesis45,X syndrome45,X/46,XX syndrome45,X0 syndrome45X syndromekaryotype 45, X