Preferred Name | Repeat Expansion Disease | |
Synonyms |
Expansion Repeat Disorder Expansion Repeat Disease Repeat Expansion Disease Repeat expansion Repeat Expansion Disorder |
|
Definitions |
A class of genetic diseases that occur when microsatellite repeats expand beyond a threshold length. |
|
ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C176696 |
|
code |
C176696 |
|
DEFINITION |
A class of genetic diseases that occur when microsatellite repeats expand beyond a threshold length. |
|
FULL_SYN |
Expansion Repeat Disorder Expansion Repeat Disease Repeat Expansion Disease Repeat expansion Repeat Expansion Disorder |
|
label |
Repeat Expansion Disease |
|
NCI_META_CUI |
CL1642675 |
|
Preferred_Name |
Repeat Expansion Disease |
|
prefixIRI |
Thesaurus:C176696 |
|
Semantic_Type |
Disease or Syndrome |
|
subClassOf |
Create mapping
Delete | Mapping To | Ontology | Source |
---|---|---|---|
http://purl.obolibrary.org/obo/NCIT_C176696 | BERO | LOOM |