Preferred Name |
Angelman_Syndrome |
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Synonyms |
|
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ID |
http://www.owl-ontologies.com/Ontology1358660052.owl#Angelman_Syndrome |
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ID |
C75462 |
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NCI_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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NCI_PT |
Angelman Syndrome |
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NICHD_Definition |
_ |
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prefixIRI |
Angelman_Syndrome |
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prefLabel |
Angelman_Syndrome |
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Subset_Association1 |
NICHD Pediatric Terminology |
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Subset_Association2 |
Neonatal Research Network Terminology |
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SYN | ||
subClassOf |
http://www.owl-ontologies.com/Ontology1358660052.owl#Genetic_Disorder |
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