loading...| Preferred Name |
Angelman syndrome |
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| Synonyms |
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|
| Definitions |
A neurogenetic disorder characterized by severe intellectual deficit and distinct facial dysmorphic features. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_72 |
|
| definition |
A neurogenetic disorder characterized by severe intellectual deficit and distinct facial dysmorphic features. |
|
| definition_citation |
Orphanet |
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| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=72 |
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| has_age_of_onset |
Infancy |
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| has_inheritance |
Not applicable Unknown |
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| hasDbXref |
UMLS:C0162635 ICD-10:Q93.5 MedDRA:10049004 MeSH:D017204 ICD-11:LD90.0 OMIM:105830 |
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| label |
Angelman syndrome |
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| notation |
ORPHA:72 |
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| part_of |
http://www.orpha.net/ORDO/Orphanet_641343 http://www.orpha.net/ORDO/Orphanet_98033 http://www.orpha.net/ORDO/Orphanet_166469 |
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| prefixIRI |
ORDO:Orphanet_72 |
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| prefLabel |
Angelman syndrome |
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| present_in |
United Kingdom AND has_point_prevalence_average_value : 4.0 AND has_point_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_average_value : 7.5 AND has_point_prevalence_range : 1-9 / 100 000 Spain AND has_point_prevalence_average_value : 8.3 AND has_point_prevalence_range : 1-9 / 100 000 Denmark AND has_birth_prevalence_average_value : 0.5 AND has_birth_prevalence_range : 1-9 / 1 000 000 Estonia AND has_point_prevalence_range : 1-9 / 100 000 Australia AND has_birth_prevalence_average_value : 2.5 AND has_birth_prevalence_range : 1-9 / 100 000 Estonia AND has_birth_prevalence_average_value : 1.8 AND has_birth_prevalence_range : 1-9 / 100 000 Denmark AND has_point_prevalence_average_value : 10.0 AND has_point_prevalence_range : 1-5 / 10 000 Spain AND has_birth_prevalence_average_value : 5.0 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_birth_prevalence_average_value : 1.3 AND has_birth_prevalence_range : 1-9 / 100 000 Australia AND has_point_prevalence_range : 1-9 / 100 000 |
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| treeView |
http://www.orpha.net/ORDO/Orphanet_641343 http://www.orpha.net/ORDO/Orphanet_98033 http://www.orpha.net/ORDO/Orphanet_166469 |
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| subClassOf |