Preferred Name |
Angelman Syndrome |
|
Synonyms |
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|
Definitions |
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. |
|
ID |
http://purl.obolibrary.org/obo/NCIT_C75462 |
|
code |
C75462 |
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Contributing_Source |
Cellosaurus NICHD |
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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. |
|
in_subset |
http://purl.obolibrary.org/obo/NCIT_C90259 |
|
label |
Angelman Syndrome |
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Legacy Concept Name |
Angelman_Syndrome |
|
Preferred_Name |
Angelman Syndrome |
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prefixIRI |
NCIT:C75462 |
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prefLabel |
Angelman Syndrome |
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Semantic_Type |
Disease or Syndrome |
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UMLS_CUI |
C0162635 |
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subClassOf |
Create mapping