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National Cancer Institute Thesaurus
Last uploaded:
February 23, 2024
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| 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 |
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