loading...| Preferred Name | Myoclonic Epilepsy of Unverricht and Lundborg | |
| Synonyms |
Myoclonic Epilepsy of Unverricht and Lundborg Unverricht-Lundborg Disease Epilepsy, Progressive, Myoclonic 1A EPM1A ULD |
|
| Definitions |
An autosomal recessive condition caused by mutation(s) in the CSTB gene, encoding cystatin-B. It is characterized by progressive myoclonic epilepsy, with progression occurring between 6 and 13 years of age. |
|
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C179710 |
|
| code |
C179710 |
|
| Concept_In_Subset | ||
| Contributing_Source |
Cellosaurus |
|
| DEFINITION |
An autosomal recessive condition caused by mutation(s) in the CSTB gene, encoding cystatin-B. It is characterized by progressive myoclonic epilepsy, with progression occurring between 6 and 13 years of age. |
|
| FULL_SYN |
Myoclonic Epilepsy of Unverricht and Lundborg Unverricht-Lundborg Disease Epilepsy, Progressive, Myoclonic 1A EPM1A ULD |
|
| label |
Myoclonic Epilepsy of Unverricht and Lundborg |
|
| Preferred_Name |
Myoclonic Epilepsy of Unverricht and Lundborg |
|
| prefixIRI |
Thesaurus:C179710 |
|
| Semantic_Type |
Disease or Syndrome |
|
| UMLS_CUI |
C0751785 |
|
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.obolibrary.org/obo/NCIT_C179710 | BERO | LOOM | |
| http://purl.bioontology.org/ontology/OMIM/254800 | OMIM | LOOM |