Preferred Name | Tay-Sachs_Disease | |
Synonyms |
|
|
ID |
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Tay-Sachs_Disease |
|
CUI |
D0000806 |
|
prefixIRI |
ESSO:Tay-Sachs_Disease |
|
prefLabel |
Tay-Sachs_Disease |
|
sources |
ILAE 1989 Tay-Sachs and Sandhoff disease present with acoustic startle or myoclonus in the first months of life, without EEG manifestations. In the second year, myoclonic jerks and erratic partial seizures occur, along with marked slowing of the background rhythms. |
|
subClassOf |
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Genetic_Disease |
Create mapping