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Regulation of Transcription Ontology
Last uploaded:
December 4, 2018
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| Preferred Name | Angelman syndrome | |
| Synonyms |
AS |
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| Definitions |
(AS) - A neurodevelopmental disorder characterized by severe motor and intellectual retardation, ataxia, frequent jerky limb movements and flapping of the arms and hands, hypotonia, seizures, absence of speech, frequent smiling and episodes of paroxysmal laughter, open-mouthed expression revealing the tongue. |
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| ID |
http://identifiers.org/omim/105830 |
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| altLabel |
AS
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| definition |
(AS) - A neurodevelopmental disorder characterized by severe motor and intellectual retardation, ataxia, frequent jerky limb movements and flapping of the arms and hands, hypotonia, seizures, absence of speech, frequent smiling and episodes of paroxysmal laughter, open-mouthed expression revealing the tongue.
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| id |
OMIM:105830
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| notation |
OMIM:105830
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| prefLabel |
Angelman syndrome
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| subClassOf |
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