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Autism Spectrum Disorder Phenotype Ontology
Last uploaded:
January 21, 2014
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| Preferred Name | Angelman Syndrome | |
| Synonyms |
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| Definitions |
A syndrome characterized by multiple abnormalities, mental retardation, and movement disorders. Present usually are skull and other abnormalities, frequent infantile spasms easily provoked and prolonged paroxysms of laughter, jerky puppet-like movements, continuous tongue protrusion; motor retardation; ataxia, muscle hypotonia, and a peculiar facies. |
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| ID |
http://cbmi.med.harvard.edu/asdphenotype#Class_502 |
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| definition |
A syndrome characterized by multiple abnormalities, mental retardation, and movement disorders. Present usually are skull and other abnormalities, frequent infantile spasms easily provoked and prolonged paroxysms of laughter, jerky puppet-like movements, continuous tongue protrusion; motor retardation; ataxia, muscle hypotonia, and a peculiar facies.
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| label |
Angelman Syndrome
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| prefixIRI |
asd:Class_502
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| prefLabel |
Angelman Syndrome
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| seeAlso | ||
| subClassOf |
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