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Cigarette Smoke Exposure Ontology
Last uploaded:
July 10, 2014
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| Preferred Name | Angelman Syndrome | |
| Synonyms |
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| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Angelman_Syndrome |
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| DEFINITION |
A genetic syndrome characterized by mental retardation, speech impairment, microcephaly, ataxia, and seizures. The majority of cases result from deletions on the long arm of chromosome 15. A minority of cases result from mutations in the UBE3A gene.
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| isDefinedBy |
A genetic syndrome characterized by mental retardation, speech impairment, microcephaly, ataxia, and seizures. The majority of cases result from deletions on the long arm of chromosome 15. A minority of cases result from mutations in the UBE3A gene.
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| label |
Angelman Syndrome
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| prefixIRI |
Thesaurus:Angelman_Syndrome
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| prefLabel |
Angelman Syndrome
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| subClassOf |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Uniparental_Disomy |
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