Preferred Name |
Angelman Syndrome |
|
Synonyms |
Angelman Syndrome |
|
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://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C75462 |
|
code |
C75462 |
|
Concept_In_Subset |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C90259 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C192842 |
|
Contributing_Source |
Cellosaurus NICHD |
|
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. |
|
FULL_SYN |
Angelman Syndrome |
|
label |
Angelman Syndrome |
|
Legacy Concept Name |
Angelman_Syndrome |
|
Preferred_Name |
Angelman Syndrome |
|
prefixIRI |
Thesaurus:C75462 |
|
Semantic_Type |
Disease or Syndrome |
|
UMLS_CUI |
C0162635 |
|
subClassOf |