Preferred Name |
Angelman Syndrome |
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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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