loading...| Preferred Name |
Turner syndrome |
|
| Synonyms |
45,X syndrome |
|
| Definitions |
A rare chromosomal anomaly syndrome characterized by complete or partial loss of an X chromosome in phenotypic females, clinically manifesting with short stature, primary ovarian insufficiency as well as cardiovascular, renal, liver, autoimmune diseases, hearing loss and neurocognitive abnormalities. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_881 |
|
| alternative_term |
45,X syndrome 45,X/46,XX syndrome |
|
| definition |
A rare chromosomal anomaly syndrome characterized by complete or partial loss of an X chromosome in phenotypic females, clinically manifesting with short stature, primary ovarian insufficiency as well as cardiovascular, renal, liver, autoimmune diseases, hearing loss and neurocognitive abnormalities. |
|
| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=881 |
|
| has_age_of_onset |
Antenatal Childhood Infancy Neonatal |
|
| has_inheritance |
Not applicable Unknown |
|
| hasDbXref |
ICD-10:Q96.8 UMLS:C0041408 ICD-10:Q96.2 ICD-10:Q96.9 ICD-10:Q96.4 ICD-10:Q96.1 ICD-10:Q96.0 MeSH:D014424 MedDRA:10045181 ICD-10:Q96.3 ICD-11:LD50.0 |
|
| label |
Turner syndrome |
|
| notation |
ORPHA:881 |
|
| part_of |
http://www.orpha.net/ORDO/Orphanet_325638 http://www.orpha.net/ORDO/Orphanet_98642 http://www.orpha.net/ORDO/Orphanet_568047 http://www.orpha.net/ORDO/Orphanet_485382 http://www.orpha.net/ORDO/Orphanet_263717 http://www.orpha.net/ORDO/Orphanet_325546 http://www.orpha.net/ORDO/Orphanet_399877 http://www.orpha.net/ORDO/Orphanet_93547 http://www.orpha.net/ORDO/Orphanet_477771 http://www.orpha.net/ORDO/Orphanet_95710 |
|
| prefixIRI |
ORDO:Orphanet_881 |
|
| prefLabel |
Turner syndrome |
|
| present_in |
Bulgaria AND has_birth_prevalence_average_value : 10.5 AND has_birth_prevalence_range : 1-5 / 10 000 Germany AND has_birth_prevalence_average_value : 8.0 AND has_birth_prevalence_range : 1-9 / 100 000 Poland AND has_birth_prevalence_average_value : 3.6 AND has_birth_prevalence_range : 1-9 / 100 000 Austria AND has_birth_prevalence_average_value : 7.5 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_birth_prevalence_average_value : 5.5 AND has_birth_prevalence_range : 1-9 / 100 000 Norway AND has_birth_prevalence_average_value : 4.2 AND has_birth_prevalence_range : 1-9 / 100 000 Hungary AND has_birth_prevalence_average_value : 3.2 AND has_birth_prevalence_range : 1-9 / 100 000 France AND has_birth_prevalence_average_value : 7.1 AND has_birth_prevalence_range : 1-9 / 100 000 Malta AND has_birth_prevalence_average_value : 1.1 AND has_birth_prevalence_range : 1-9 / 100 000 Croatia AND has_birth_prevalence_average_value : 3.6 AND has_birth_prevalence_range : 1-9 / 100 000 Singapore AND has_birth_prevalence_average_value : 42.5 AND has_birth_prevalence_range : 1-5 / 10 000 Portugal AND has_birth_prevalence_average_value : 2.8 AND has_birth_prevalence_range : 1-9 / 100 000 Belgium AND has_birth_prevalence_average_value : 7.9 AND has_birth_prevalence_range : 1-9 / 100 000 Ukraine AND has_birth_prevalence_average_value : 2.3 AND has_birth_prevalence_range : 1-9 / 100 000 United Kingdom AND has_birth_prevalence_average_value : 10.1 AND has_birth_prevalence_range : 1-5 / 10 000 Spain AND has_birth_prevalence_average_value : 2.8 AND has_birth_prevalence_range : 1-9 / 100 000 Netherlands AND has_birth_prevalence_average_value : 14.0 AND has_birth_prevalence_range : 1-5 / 10 000 Ireland AND has_birth_prevalence_average_value : 7.1 AND has_birth_prevalence_range : 1-9 / 100 000 Italy AND has_birth_prevalence_average_value : 3.4 AND has_birth_prevalence_range : 1-9 / 100 000 Denmark AND has_birth_prevalence_average_value : 10.4 AND has_birth_prevalence_range : 1-5 / 10 000 Japan AND has_birth_prevalence_average_value : 70.0 AND has_birth_prevalence_range : 6-9 / 10 000 Europe AND has_point_prevalence_range : 1-5 / 10 000 Switzerland AND has_birth_prevalence_average_value : 22.4 AND has_birth_prevalence_range : 1-5 / 10 000 |
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| treeView |
http://www.orpha.net/ORDO/Orphanet_325638 http://www.orpha.net/ORDO/Orphanet_98642 http://www.orpha.net/ORDO/Orphanet_568047 http://www.orpha.net/ORDO/Orphanet_485382 http://www.orpha.net/ORDO/Orphanet_263717 http://www.orpha.net/ORDO/Orphanet_325546 http://www.orpha.net/ORDO/Orphanet_399877 http://www.orpha.net/ORDO/Orphanet_93547 http://www.orpha.net/ORDO/Orphanet_477771 http://www.orpha.net/ORDO/Orphanet_95710 |
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| subClassOf |