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Orphanet Rare Disease Ontology
| Preferred Name | Down syndrome | |
| Synonyms |
Trisomy 21 |
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| Definitions |
A total autosomal trisomy that is caused by the presence of a third (partial or total) copy of chromosome 21 and that is characterized by variable intellectual disability, muscular hypotonia, and joint laxity, often associated with a characteristic facial dysmorphism and various anomalies such as cardiac, gastrointestinal, neurosensorial or endocrine defects. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_870 |
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| alternative_term |
Trisomy 21
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|
| definition |
A total autosomal trisomy that is caused by the presence of a third (partial or total) copy of chromosome 21 and that is characterized by variable intellectual disability, muscular hypotonia, and joint laxity, often associated with a characteristic facial dysmorphism and various anomalies such as cardiac, gastrointestinal, neurosensorial or endocrine defects.
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| definition_citation |
Orphanet
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| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=870 |
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| has_age_of_onset |
Antenatal Neonatal
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| has_inheritance |
Not applicable
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| hasDbXref |
ICD-10:Q90.0 UMLS:C0013080 MeSH:D004314 OMIM:190685 ICD-10:Q90.1 ICD-11:LD40.0 ICD-10:Q90.9 ICD-10:Q90.2 MedDRA:10044688
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| label |
Down syndrome
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| notation |
ORPHA:870
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| part_of |
http://www.orpha.net/ORDO/Orphanet_98642 http://www.orpha.net/ORDO/Orphanet_117573 http://www.orpha.net/ORDO/Orphanet_98576 http://www.orpha.net/ORDO/Orphanet_156532 http://www.orpha.net/ORDO/Orphanet_611327 http://www.orpha.net/ORDO/Orphanet_102283 http://www.orpha.net/ORDO/Orphanet_477771 http://www.orpha.net/ORDO/Orphanet_522564 http://www.orpha.net/ORDO/Orphanet_98623 http://www.orpha.net/ORDO/Orphanet_98574 |
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| prefixIRI |
ORDO:Orphanet_870
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| prefLabel |
Down syndrome
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| present_in |
Europe AND has_birth_prevalence_average_value : 101.0 AND has_birth_prevalence_range : >1 / 1000 United States AND has_birth_prevalence_average_value : 126.0 AND has_birth_prevalence_range : >1 / 1000 France AND has_birth_prevalence_average_value : 63.7 AND has_birth_prevalence_range : 6-9 / 10 000 Hungary AND has_birth_prevalence_average_value : 75.0 AND has_birth_prevalence_range : 6-9 / 10 000 Worldwide AND has_point_prevalence_range : 1-5 / 10 000 Europe AND has_point_prevalence_average_value : 57.0 AND has_point_prevalence_range : 1-5 / 10 000 Ukraine AND has_birth_prevalence_average_value : 100.0 AND has_birth_prevalence_range : >1 / 1000 United Kingdom AND has_point_prevalence_average_value : 66.0 AND has_point_prevalence_range : 6-9 / 10 000 South Africa AND has_birth_prevalence_average_value : 130.0 AND has_birth_prevalence_range : >1 / 1000 Germany AND has_birth_prevalence_average_value : 98.3 AND has_birth_prevalence_range : 6-9 / 10 000 Spain AND has_birth_prevalence_average_value : 69.0 AND has_birth_prevalence_range : 6-9 / 10 000 Italy AND has_birth_prevalence_average_value : 74.0 AND has_birth_prevalence_range : 6-9 / 10 000 Netherlands AND has_birth_prevalence_average_value : 91.2 AND has_birth_prevalence_range : 6-9 / 10 000 Switzerland AND has_birth_prevalence_average_value : 98.0 AND has_birth_prevalence_range : 6-9 / 10 000 Poland AND has_birth_prevalence_average_value : 66.0 AND has_birth_prevalence_range : 6-9 / 10 000 Denmark AND has_birth_prevalence_average_value : 59.0 AND has_birth_prevalence_range : 1-5 / 10 000 Worldwide AND has_birth_prevalence_average_value : 95.0 AND has_birth_prevalence_range : 6-9 / 10 000 Croatia AND has_birth_prevalence_average_value : 44.0 AND has_birth_prevalence_range : 1-5 / 10 000 Portugal AND has_birth_prevalence_average_value : 38.0 AND has_birth_prevalence_range : 1-5 / 10 000 Belgium AND has_birth_prevalence_average_value : 70.0 AND has_birth_prevalence_range : 6-9 / 10 000 Japan AND has_birth_prevalence_average_value : 174.0 AND has_birth_prevalence_range : >1 / 1000 Ireland AND has_birth_prevalence_average_value : 235.0 AND has_birth_prevalence_range : >1 / 1000 United Kingdom AND has_birth_prevalence_average_value : 91.6 AND has_birth_prevalence_range : 6-9 / 10 000 Norway AND has_birth_prevalence_average_value : 110.0 AND has_birth_prevalence_range : >1 / 1000
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| treeView |
http://www.orpha.net/ORDO/Orphanet_98642 http://www.orpha.net/ORDO/Orphanet_117573 http://www.orpha.net/ORDO/Orphanet_98576 http://www.orpha.net/ORDO/Orphanet_156532 http://www.orpha.net/ORDO/Orphanet_611327 http://www.orpha.net/ORDO/Orphanet_102283 http://www.orpha.net/ORDO/Orphanet_477771 http://www.orpha.net/ORDO/Orphanet_522564 http://www.orpha.net/ORDO/Orphanet_98623 http://www.orpha.net/ORDO/Orphanet_98574 |
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